Clinical Features Of Chinese Patients Research Articles

Hydroxychloroquine-induced pigmentation in rheumatic diseases: prevalence, clinical features and influencing factors.

To describe the clinical features of Chinese patients with hydroxychloroquine (HCQ)-induced pigmentation and analyze the potential risk factors associated with HCQ-induced pigmentation. A cross-sectional study was conducted over a duration of 7 months, during which patients who had received HCQ treatment for >6 months were included. Data was collected through a structured questionnaire that encompassed demographic and geographic characteristics, information on HCQ and concomitant medication usage, sun exposure characteristics, and hyperpigmentation-related characteristics. Univariate and multivariate analyses were employed to calculate the statistical association between HCQ-induced pigmentation and multiple variables. Out of 316 patients, 83 (26.3%) patients presented hyperpigmentation during HCQ treatment. Hyperpigmentation presented after a median duration of HCQ treatment of 12 months (interquartile range, 6.0 months-30.0 months) with a median cumulative dose of 108 g of HCQ (interquartile range, 36-288 g). The most frequently affected sites of pigmentation were the face (60.2%), lower limbs (36.1%), and hands (20.5%). There was a linear decrease in the incidence of pigmentation with increasing daily sun exposure time (p= 0.030). In the multivariate analysis, variables (cumulative HCQ dose and daily sun exposure time) were included in the final models. The results revealed an independent correlation between HCQ-induced pigmentation and daily sun exposure exceeding 1 h (OR: 0.431; 95%CI: 0.208-0.892; p= 0.023). The occurrence of HCQ-induced pigmentation is not uncommon, with an incidence rate of 26.3%. Daily sun exposure time exhibited a protective effect against HCQ-induced pigmentation.

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.

Familial focal epilepsy with variable foci (FFEVF) is a rare type of focal epilepsy syndrome; it is associated with NPRL3 variant. However, relevant reports are rare in China. We aimed to analyze the clinical features of Chinese patients with FFEVF to understand further the differences between various NPRL3 variants and explored the effect of NPRL3 variant on mRNA. We ran a full workup on a family with FFEVF (four patients, one healthy member): an inquiry of medical history, cranial magnetic resonance imaging (MRI), electroencephalogram (EEG), and whole exon sequencing. Their clinical features were compared with those of other FFEVF patients in published reports. The mRNA splicing changes were analyzed quantitatively and qualitatively using real-time quantitative-polymerase chain reaction (q-PCR) and reverse transcription (RT)-PCR and compared between our patients and healthy individuals. Patients with NPRL3: c.1137dupT variant had a wide range of onset age (4 months to 31 years), diverse seizure types, variable foci (frontal lobe/temporal lobe), different seizure times (day/night) and frequencies (monthly/seldom/every day), different therapeutic effects (refractory epilepsy/almost seizure free), normal MRI, and abnormal EEG (epileptiform discharge, slow wave). The phenotypic spectrum with different NPRL3 variants was either similar or different. Significantly different relative quantities of mRNA were found between patients and healthy individuals in real-time qPCR. Abnormal splicing was observed in patients compared with healthy individual in RT-PCR. Despite having the same gene variant, different family members had different mRNA splicing, possibly causing different phenotypes. The clinical features of FFEVF varied, and auxiliary inspection was atypical. NPRL3: c.1137dupT could change the relative quantity of mRNA and cause abnormal splicing, which might produce different phenotypes in different family members.

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China

BackgroundAicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic.MethodsThe genetic and clinical features of Chinese patients with AGS were collected. Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs).ResultsA total of 23 cases were included, consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations, 3 of AGS2 with ribonuclease H2 subunit B (RNASEH2B) mutations, 3 of ASG3 with RNASEH2C, 1 of AGS4 with RNASEH2A mutations, 2 of AGS6 with adenosine deaminase acting on RNA 1 mutations, and 7 of AGS7 with interferon induced with helicase C domain 1 mutations. Onset before the age of 3 years occurred in 82.6%. Neurologic involvement was most common (100%), including signs of intracranial calcification which mainly distributed in the bilateral basal ganglia, leukodystrophy, dystonia, epilepsy, brain atrophy and dysphagia. Intellectual disability, language disability and motor skill impairment were also observed. Skin manifestations (60.87%) were dominated by a chilblain-like rash. Features such as microcephaly (47.62%), short stature (52.38%), liver dysfunction (42.11%), thyroid dysfunction (46.15%), positive autoimmune antibodies (66.67%), and elevated erythrocyte sedimentation rate (53.85%) were also found. The phenotypes of 2 cases fulfilled the diagnostic criteria for systemic lupus erythaematosus (SLE). One death was recorded. ISGs expression were elevated.ConclusionsAGS is a systemic disease that causes sequelae and mortality. A diagnosis of AGS should be considered for patients who have an early onset of chilblain-like rash, intracranial calcification, leukodystrophy, dystonia, developmental delay, positive autoimmune antibodies, and elevated ISGs, and for those diagnosed with SLE with atypical presentation who are nonresponsive to conventional treatments. Comprehensive assessment of vital organ function and symptomatic treatment are important.

Clinical features of Chinese patients with Takotsubo syndrome

Objective: To analyze the characteristics, diagnosis and treatment status of Takotsubo syndrome (TTS) of Chinese patients. Methods: Complete literature review was performed to summarize Chinese TTS cases between 2007 and 2018. Results: A total of 131 literatures were included including 160 TTS patients (age (58.3±14.7) years). There were 137 female patients (85.6%) in this cohort, the age was (59.6±14.0) years. There were 124 cases (77.5%) of stress-evoking factors, of which 83 cases (66.9%) were self-stress factors. There were 97 cases (60.6%) complained of chest pain and 15 cases (9.4%) with syncope. Forty-eight cases (30.0%) presented with cardiogenic shock. CK-MB and cTnT/I increased in 109 cases (80.1%). There were 124 cases (77.5%) presented with ST segment elevation on electrocardiogram, which were common in lead V2-V5. Echocardiography results were available in 128 cases (80.0%), reduced left ventricular ejection fraction (<50%) was reported in 78 cases (73.6%). Coronary angiography was performed in 133 patients (83.1%), of which 126 patients (94.7%) had normal coronary arteries or single non-significant stenosis. One hundred and thirty-eight patients (87.3%) were apical type. The misdiagnosis rate on admission was 96.9% (155/160), of which 141 cases (88.1%) were misdiagnosed as acute myocardial infarction. Nitroglycerin was used in 36 patients (30.3%). Angiotensin converting enzyme inhibitor or angiotensin Ⅱ receptor antagonist were used in 38 patients (31.9%). β blockers were used in 46 patients (38.7 %). Dopamine was used in 22 cases (18.5%) and norepinephrine was used in 12 cases (10.1%). Intra-aortic balloon counter pulsation was used in 5 cases (3.1%). Cardiopulmonary resuscitation was performed in 9 cases (5.6%). Cardiac function recovery time was 7 (6, 15) days. The average InterTAK diagnosis score was (51.5±18.1) points, and value was>70 points in 2 cases (1.3%). There were 92 patients in the high-risk group, and there were 3 recurrent TTS cases. Five patients died. Conclusions: TTS incidence tends to be young and dominates in female in China. The misdiagnosis rate is extremely high on admission. Most patients are treated with medication.

Characteristics and Clinical Outcomes of 295 Patients With Relapsing Polychondritis.

This study analyzes the clinical features of Chinese patients with relapsing polychondritis (RP). The clinical data of 295 patients with RP at Beijing Tongren Hospital were retrospectively analyzed. The mean age of onset was 41.0 ± 15.0 years. The sex ratio was 1:1. Up to 70.5% of the patients had airway involvement during the disease course; among them, the larynx was most commonly affected (82.2%). One-quarter (25.7%) of the patients with laryngeal involvement underwent tracheotomy as a result of progressive dyspnea or acute laryngeal obstruction. Younger age at onset and respiratory symptoms at initial presentation were independent risk factors for tracheotomy in patients with RP with laryngeal involvement. The risk of tracheotomy in patients who presented with respiratory symptoms was 2.35 times higher than that of patients who presented with other symptoms (HR 2.35, 95% CI 1.23-4.50, P = 0.01). The risk of tracheotomy increased by 4.8% for every 1-year decrease in the age at onset (HR 0.95, 95% CI 0.93-0.97, P < 0.001). The incidence of lower respiratory tract infection was much higher in patients with airway involvement than in those without airway involvement. The main cause of death was respiratory failure as a result of airway obstruction. There is a high prevalence of airway involvement in Chinese patients with RP. Laryngeal involvement is associated with a high risk of death. More attention should be paid to patients with RP with laryngeal involvement who are young at disease onset and present with respiratory symptoms.

Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.

ObjectiveEarly-onset dementia (EOD) is a relatively uncommon form of dementia that afflicts people before age 65. Only a few studies analyzing the genetics of EOD have been performed in the Chinese Han population. Diagnosing EOD remains a challenge due to the diverse genetic and clinical heterogeneity of these diseases. The aim of this study was to investigate the genetic spectrum and clinical features of Chinese patients with EOD.Materials and MethodsA total of 49 EOD patients were recruited. Targeted next-generation (NGS) analyses were performed to screen for all of the known genes associated with dementia. Possible pathogenic variants were confirmed by performing Sanger sequencing. The genetic spectrum and clinical features of the EOD patients were analyzed.ResultsSeven previously reported pathogenic variants (p.I213T and p.W165C in PSEN1; p.D678N in APP; c.1349_1352del in TBK1; p.P301L and p.R406W in MAPT; p.R110C in NOTCH3) and two novel variants of uncertain significance (p.P436L in PSEN2; c.239-11G>A in TARDBP) were identified.ConclusionOur study demonstrated the genetic spectrum and clinical features of EOD patients, and it reveals that genetic testing of known causal genes in EOD patients can help to make a precise diagnosis.

Clinical characteristics of cytomegalovirus gastritis: A retrospective study from a tertiary medical center.

Cytomegalovirus (CMV) gastritis is a rare opportunistic infection with diverse clinical manifestations. Our study aimed to investigate the clinical features of Chinese patients with CMV gastritis.Six inpatients diagnosed with CMV gastritis were retrospectively enrolled, based on the finding of inclusion bodies in routine hematoxylin and eosin staining or positive anti-CMV monoclonal antibodies under immunohistochemistry in the gastric biopsy. Data, including demographics, diagnostic measurements, and medications, were collected.Abdominal pain was the most frequently reported symptom, occurring in 4 patients. Five patients were immunocompromised with associated underlying diseases, and 3 patients had decreased leukocyte differentiation antigen 4 positive (CD4+) T lymphocyte counts. Only 3 patients had either positive cytomegalovirus (CMV)-immunoglobulin (Ig) M or increased copies of CMV-DNA peripherally. All patients had gastric lesions in the antrum of the stomach, including ulcers or erosions observed by gastroscopy. All patients received ganciclovir by intravenous injection (IV) as the first line anti-CMV therapy, and attained complete (4) or partial remission (2) during the follow-up.CMV gastritis should be taken into consideration in patients with immunocompromised status who have abdominal pain, nausea, or vomiting. Gastroscopy and necessary biopsy are the major diagnostic methods for CMV gastritis. Early diagnosis leads to a better prognosis for these patients.

Clinical analysis of Chinese anti-low-density-lipoprotein-receptor-associated protein 4 antibodies in patients with myasthenia gravis.

Low-density-lipoprotein-receptor-associated protein 4 (LRP4) autoantibodies have recently been detected in myasthenia gravis (MG), but little is known about the clinical characteristics associated with this serological type. In this study, the clinical features of Chinese patients with anti-LRP4 antibody-positive MG were characterized. A total of 2172 MG serum samples were collected from patients in various parts of China. An enzyme-linked immunosorbent assay was used to detect acetylcholine receptor (AChR) antibody and titin antibody, and cell-based assays were used to detect muscle-specific kinase antibody and LRP4 antibody. Clinical data for patients with MG were collected from different provinces in China. In total, 16 (0.8%) patients with LRP4-MG were found amongst 2172 total patients, including three patients with AChR/LRP4-MG. Additionally, 13 (2.9%) patients with LRP4-MG were found amongst 455 patients with double seronegative MG. The ratio of males to females for these 13 patients was 1:1.6, and 53.8% patients were children. A total of 91.7% of cases exhibited initial ocular involvement, and 58.3% of cases exhibited simple eye muscle involvement. Responses to acetylcholinesterase inhibitors and prednisone were observed. The expanded sample confirmed that the positive rate of LRP4 antibodies in China is lower than that in western countries. Our results highlighted the differences between LRP4-MG and other antibody groups. Children and female patients with LRP4-MG have a higher prevalence, often involving the ocular muscles and limb muscles. The clinical symptoms are mild, and satisfactory responses to treatment are often achieved.

Clinical features of Chinese patients with relapsing polychondritis

PurposeTo characterise the ocular and extraocular findings in patients with relapsing polychondritis (RP) patients.DesignRetrospective, longitudinal study.MethodsA total number of 16 patients with ocular RP, seen in our tertiary uveitis referral...

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA genes in a cohort of 33 unrelated ataxia patients. A total of 5 pedigrees were finally genetically diagnosed as mitochondrial ataxia, with 3 pathogenic mutations (m.8344A>G, m.9176T>C, and m.9185T>C), one likely pathogenic mutation (m.3995A>G) in mtDNA, and one pathogenic mutation (c.1159_1162dupAAGT, p.Ser388Terfs) in PDHA1. The prevalence of mitochondrial ataxia in our patient cohort is 15.2%. In addition, all 4 patients with mtDNA mutations experienced symptoms of ataxia with age at onset ranging from 12 to 39years (21±12.2) and developed extrapyramidal symptoms during the disease course. One male patient with pyruvate dehydrogenase deficiency showed an acute intermittent ataxia phenotype. Our results implicate that mitochondrial ataxia might not be as rare in Chinese as previously assumed. This study firstly defines the mutations of mitochondrial ataxia in a Chinese population by targeted NGS, which broadens the clinical spectrum of mtDNA mutations and highlights the importance of screening mtDNA and nDNA mutations among undefined ataxia patients.

Clinical features of demyelinating optic neuritis with seropositive myelin oligodendrocyte glycoprotein antibody in Chinese patients

Background/aimsTo investigate the clinical features of Chinese patients with seropositive myelin oligodendrocyte glycoprotein antibody (MOG-Ab) optic neuritis (ON) and patients with seropositive aquaporin-4 antibody (AQP4-Ab) ON.MethodsIn this retrospective observational study,...

Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients.

Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing

Gerstmann–Sträussler–Scheinker (GSS) is an autosomal dominant neurodegenerative disease due to mutations within prion protein (PRNP) gene. Clinically, it is not easy to distinguish GSS from spinocerebellar ataxia (SCA), especially in the early stage of disease. We aimed to identify genetic mutations in 8 Chinese pedigrees with dominant ataxia but excluded dynamic mutations of SCA genes. Targeted next-generation sequencing was performed in the 8 probands. A customized panel was designed to capture 24 known causative genes, including 15 autosomal dominant SCA genes and 9 dementia-related genes. A 2-year follow-up was performed in these patients who harbored mutation. Of the 8 probands, 5 were identified to harbor the p.P102L mutation within PRNP. All these 5 cases had progressive ataxia with age at onset ranging from 48 to 52 years (49.5 ± 4.51). Remarkable phenotypic heterogeneity was observed in them. Cognitive decline was found in 4/5 probands. The average duration from initial symptoms to cognitive decline is 32.5 months, ranging from 22 to 48 months. In this study, we presented the detailed clinical features of 5 GSS pedigrees with PRNP p.P102L mutation. The variable phenotypes among these GSS patients indicated other genetic or environmental factors might be involved in the phenotypic heterogeneity of GSS. Our findings also support the proposal that screening of PRNP mutations should be performed for the patients with dominant ataxia if dynamic mutations of SCA genes were excluded.

Clinical markers of neurodegeneration in Chinese patients with idiopathic rapid eye movement sleep behavior disorder

ObjectiveIt is reported that neurodegenerative markers of Parkinson’s disease occur in patients with idiopathic rapid eye movement sleep behavior disorder (idiopathic RBD); however, it has been unknown in Chinese patients. This study aims to provide a detailed understanding of the clinical features of Chinese patients with idiopathic RBD. MethodsWe conducted a series of Parkinson related motor and non-motor assessments in 181 participants including 41 patients with idiopathic RBD, 35 Parkinson’s patients without RBD, 42 Parkinson’s patients with RBD, and 63 healthy controls. The RBD questionnaire −Hong Kong (RBDQ-HK) was used to confirm clinical RBD symptoms and evaluate the severity. Motor function including Unified Parkinson’s disease Rating Scale (UPDRS), alternative tap test, Purdue Pegboard test and Timed Up and Go test, and non-motor functions including olfaction, cognition, and autonomic function were assessed in each group. ResultsMotor assessments of UPDRS, Purdue Pegboard, and Timed Up and Go, and the systolic blood pressure (BP) drop in patients with idiopathic RBD were intermediate between controls and Parkinson’s patients. However, the alternative tap test and some non- motor functions including olfaction and orthostatic symptoms in idiopathic RBD were impaired as seriously as in Parkinson’s disease. No difference was found in urinary and bowel function between idiopathic RBD and controls. In idiopathic RBD, functional impairment was associated with age and the severity of RBD symptoms (p<0.05). In addition, systolic BP drops closely correlated to motor function and bowel function (p<0.05). ConclusionsChinese patients with idiopathic RBD demonstrated an extensive and heterogeneous functional impairment. The association between functional impairment and age and the severity of RBD symptoms needs to be determined in future studies.

Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study.

Background:Recently, calreticulin (CALR) gene mutations have been identified in patients with essential thrombocythemia (ET). A high-frequency of ET cases without Janus kinase 2 (JAK2) mutations contain CALR mutations and exhibit clinical characteristics different from those with mutant JAK2. Thus, we investigated the frequency and clinical features of Chinese patients of Han ethnicity with CALR mutations in ET.Methods:We recruited 310 Chinese patients of Han ethnicity with ET to analyze states of CALR, JAK2V617F, and MPLW515 mutations by polymerase chain reaction and direct sequencing. We analyzed the relationship between the mutations and clinical features.Results:CALR, JAK2V617F, and MPLW515 mutations were detected in 30% (n = 92), 48% (n = 149), and 1% (n = 4) of patients with ET, respectively. The mutation types of CALR involved deletion and insertion of base pairs. Most of them were Type 1 (52-bp deletion) and Type 2 (5-bp insertion, TTGTC) mutations, leading to del367fs46 and ins385fs47, respectively. The three mutations were exclusive. Clinically, patients with mutated CALR had a lower hemoglobin level, lower white blood cell (WBC) count, and higher platelet count compared to those with mutated JAK2 (P < 0.05). Furthermore, a significant difference was found in WBCs between wild-type patients (triple negative for JAK2, MPL, and CALR mutations) and patients with JAK2 mutations. Patients with CALR mutations predominantly clustered into low or intermediate groups according to the International Prognostic Score of thrombosis for ET (P < 0.05).Conclusions:CALR mutations were frequent in Chinese patients with ET, especially in those without JAK2 or MPL mutations. Compared with JAK2 mutant ET, CALR mutant ET showed a different clinical manifestation and an unfavorable prognosis. Thus, CALR is a potentially valuable diagnostic marker and therapeutic target in ET.

Clinical Features of Chinese Patients with Paroxysmal Nocturnal Hemoglobinuria Diagnosed By FLAER

Objective:To summary the clinical features of Chinese patients with paroxysmal nocturnal hemoglobinuria (PNH) diagnosed by FLAER.Methods:The clinical data of 98 cases diagnosed by FLAER from September 2011 to March 2014 were analyzed retrospectively, including clinical features, laboratory examination results and complications. Patients were divided into three clinical groups according to the standard proposed by the International PNH Interest Group. This classification has been applied to each patient considering the clinical characteristics of the disease, bone marrow failure and PNH clone size. Statistical analysis: We presented continuous data as mean and standard deviation or median and interquartile range (IQR), with extreme values. The distributions of the presentation characteristics were compared among the three subcategories and between classic PNH and PNH-sc/AA by chi-square test or Fisher exact test when necessary for qualitative characteristics, and by Kruskal-Wallis (three subcategories) or Mann-Whitney (two groups) test for continuous characteristics. Spearman's rank correlation coefficient was used to measure correlations. Overall survival (OS) estimated by the Kaplan-Meier method was compared using the log-rank test. The Cox proportional hazards model was used to assess the risk factors for survival in both univariate and multivariate analyses. All of the analyses were performedusing statistical package SPSS 17.0. P<0.05 was considered as statistically significant.Results:There were 43 cases of classic PNH, 45 of PNH combined with other specific bone marrow disorders, 10 cases of subclinical PNH. 11 patients with PNH less than 18 years of age belong to adolescents, and other 87 PNH were adults. 70 patients were with fatigue, 41 patients with PNH manifested hemoglobinuria. Thrombosis in 6 cases, mostly formed in rare sites. 17 cases and 19 cases concurrented with renal and liver impairment respective. Only 2 cases of PNH were suffered with pulmonary hypertension simultaneously. Classic PNH was more susceptible to hemolysis, the bone marrow failure features of PNH combined with other specific bone marrow disorder was markedly obvious. The value of lactate dehydrogenase (LDH) level over normal range was related with the size of clone PNH-the GPI negative granulocyte, linearly (R=0.710, P<0.001). Patients with high PNH clone were specially prone to thrombosis. The incidence of hemoglobinuria in adolescent group was significantly lower than the adult group, but the rate of bleeding was higher than that of adult group.Conclusion:In Chinese patients with PNH, bone marrow failure, renal and liver impairment and thrombosis in rare sites was relatively common. But pulmonary arterial hypertension happened seldomly. Adult patients were more susceptible to hemolysis, but the megakaryocyte hematopoietic failure of adolescent patients combined with other specific bone marrow disorder was more obvious. DisclosuresNo relevant conflicts of interest to declare.

Clinical features of acute aortic dissection from the Registry of Aortic Dissection in China

To establish a systematic registry of aortic dissection in China, assess the clinical features of Chinese patients with acute aortic dissection (AAD), and compare our results with the data published by the International Registry of Acute Aortic Dissection (IRAD). We established the first Registry of Aortic Dissection in China (Sino-RAD) in 2011. Then we evaluated 1003 patients with AAD in Sino-RAD and compared our results with those reported by IRAD. Compared with IRAD, the patients with AAD in Sino-RAD were significantly younger. Also, the ratio of male patients in Sino-RAD was significantly greater for the total cohort and the type A and B cohorts. The overall in-hospital mortality was 10.3% in Sino-RAD. For type A dissection, more patients in Sino-RAD received medical treatment and fewer received surgical treatment. The overall mortality, mortality of medical treatment, and mortality of surgical treatment was lower in Sino-RAD. In type B dissection, fewer patients in Sino-RAD received medical and surgical treatment and more received endovascular treatment. The first Sino-RAD, including 15 large cardiovascular centers throughout China, was established. Our data were compared with those reported by IRAD. We found that, compared with Western populations, Chinese patients with AAD showed 6 differences, including earlier onset, more male patients, a low incidence of hypertension, a low incidence of chest pain, a high incidence of back pain, great differences in the choice of therapeutic strategies, and relatively low in-hospital mortality.

Clinical and histological features of autoantibody‐negative autoimmune hepatitis in Chinese patients: A single center experience

This study aimed to define the clinical features of Chinese patients with autoantibody-negative autoimmune hepatitis (AIH) and to refine the diagnosis and management of these atypical patients in a single Chinese center. A retrospective evaluation of 167 Chinese patients with AIH was performed. Patients meeting comprehensive criteria with the absence of antinuclear antibodies, smooth muscle antibodies, liver-kidney microsomal-1 antibodies and antimitochondrial antibodies were defined as autoantibody-negative patients. In total, 17 (10.2%) of the 167 patients with AIH were autoantibody-negative. The general status and biochemical tests between the classical and autoantibody-negative patients were not significantly different (P > 0.05). Serum immunoglobulin G levels of the autoantibody-negative AIH patients were lower than those of the classical AIH ones (P = 0.004). There was no significant difference in the histological inflammatory grades between the two groups; however, advanced histological stages were more common in the autoantibody-negative AIH group (P < 0.001). In the autoantibody-negative AIH patients, 11 (64.7%) had a possible diagnosis and 6 (35.3%) had a definite diagnosis according to the comprehensive criteria. While with the simplified criteria only 3 patients (17.6%) had a possible diagnosis, and none had a definite diagnosis of AIH. The complete biochemical remission rate was 86% within 24 months of immunosuppressive therapy, which was comparable to classical AIH (P = 0.658). Autoantibody-negative AIH is not uncommon in Chinese AIH patients, and has a good response to immunosuppressive treatment comparable to classical patients.

Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene

Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 ± 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 ± 1.71 years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.

Clinical features of Chinese patients with multiple sclerosis with aquaporin-4 antibodies in cerebrospinal fluid but not serum

The objective of this study was to determine the levels of aquaporin-4 (AQP4) antibodies in the cerebrospinal fluid (CSF) of patients meeting the diagnostic criteria for multiple sclerosis (MS) and to describe some of the clinical features of CSF-positive cases. Thirty-five patients fulfilling the diagnostic criteria for MS but not neuromyelitis optica were included in this study. AQP4 antibodies were detected using a cell-based assay. None of the serum samples were positive for AQP4 antibodies. Five CSF samples (14.3%, 5/35) were positive for AQP4 antibodies. All CSF-positive patients had atypical brain lesions in areas known to have high levels of AQP4 expression. CSF AQP4 antibody testing is an important diagnostic aid in patients meeting MS criteria but with atypical brain or spinal lesions and serum negative for AQP4 antibodies.