肌萎缩侧索硬化症

目的：探讨肌萎缩侧索硬化症（ALS）的临床诊断依据及发病机理。方法：根据ALS的诊断标准对95例ALS进行重新诊断，结合文献及本组病例对ALS的病因及发病机理进行讨论。结果：本组肯定为ALS59例（62．11％），拟诊ASL32例（33．68％），可能为ASL4例（4．21％）。结论：临床症状、体征以及肌电图是ASL的临床诊断及鉴别诊断依据，其病因及发病机理未完全明了。     

散发性肌萎缩侧索硬化临床表现分析

肌萎缩侧索硬化（ALS）是一种成年起病的神经元变性的疾病,按发病形式分为散发（特发性）ALS（sporadic amyotrophic lateral sclerosis,SALS）和家族性ALS（familial amyotrophic lateral sclerosis,FALS）。目前诊断散发性肌萎缩侧索硬化主要依靠临床表现,辅助检查仅用于鉴别诊断。故此,本研究就近年来作者收治的SALS患者的临床表现作一综合分析,并复习相关文献,为临床诊断SALS提供更多临床依据。     

139例肌萎缩侧索硬化患者临床特点

目的:总结近10年肌萎缩侧索硬化(ALS)住院患者的临床特点。方法:收集ALS住院患者139例,对其临床资料,如年龄、性别、家族史、发病特点及肌电图结果进行综合分析,并对一个可疑家系进行基因测序。结果:住院患者中男性和女性人数比为4∶3,平均发病年龄为50岁,初次就诊时间平均为13.8个月。以脊髓症状起病的较以脑干症状起病的男性患者发病早,而以脑干症状起病的较以脊髓症状起病的女性患者发病早,但起病年龄、部位及性别之间无显著相关性。少数患者出现运动神经传导速度减慢、周围或中枢感觉传导通路障碍及视神经受累。电话随访提示小部分患者可以持续口服利鲁唑,疾病晚期时仅小部分患者考虑或已行胃造瘘术,且患者临床决定可能受多种因素影响。其中发现的一个遗传性ALS患者家系的致病位点为铜锌超氧化物歧化酶基因上一杂和突变。结论:ALS早期的非特异性症状延误了患者的入院就诊时间,从而影响了治疗效果,需要更多的临床研究来寻找提高其生活质量的干预措施。超氧化物歧化酶基因突变是其发病原因之一,而患者的其他病史与ALS之间的关系需要进一步探索。     

原发性十二指肠恶性肿瘤12例临床分析

目的：总结原发性十二指肠恶性肿瘤常见临床表现,诊断和治疗方法。方法;回顾性分析我院自1990年1月-1999年10月收治并经手术及病理证实的12例原发性十二指肠恶性肿瘤。结果：患者男9例,女3例。平均发病年龄51.4岁;平均发病时间3.4个月,肿瘤位于十二指肠降部者11例,其中腺癌10例,平地滑肌肉瘤1例,位于横部者1例,为腺癌。常见临床表现主要有上腹部疼痛（10/12）,黄疸（9/12）,上消化道出血（7/12）,恶心呕吐（7/12）,消瘦（10/12）,诊断方法主要有胃肠钡餐造影,纤维十二指肠镜,ERCP、B型超声和CT。结论：原发性十二指肠恶性肿瘤好发于十二指肠降部。以腺癌为主,早期诊断较为困难,根据临床症状选择诊断方法,治疗方法以胰十二指肠切除术为主。     

术后早期炎性肠梗阻的诊治探讨

目的：探讨术后早期炎性肠梗阻的临床特点及防治措施。方法：回顾性分析2005年1月-2008年7月收治早期炎性肠梗阻的临床资料。结果：20例患者经胃肠减压、营养支持、应用生长抑素及激素等非手术治疗治愈，平均治愈时间13．5d（4～23d）。结论：术后早期炎性肠梗阻有典型肠梗阻的共性特征，也有其特有的发病机制及临床表现，及早明确诊断、采用非手术治疗效果满意。     

血管性帕金森综合征临床特点的分析

目的：探讨血管性帕金森综合征（VP）的临床特点及治疗。方法：对35例VP患者（VP组）和42例帕金森病（PD）患者（PD组）的临床资料进行比较分析。结果：VP组平均发病年龄晚于PD组,多合并有脑血管病危险因素,临床表现以步态障碍最为突出,头颅MRI主要表现以基底核区及皮质下白质腔隙性脑梗死为主,左旋多巴等药物对帕金森样症状的治疗有一定的改善作用。结论：VP的诊断应结合病史、临床表现和影像学特征进行综合分析。     

38例大疱性类天疱疮的临床表现、组织病理及免疫荧光检查结果分析

目的 研究大疱性类天疱疮（BP）的临床表现、组织病理及免疫荧光特点,旨在为BP患者的临床诊断提供参考依据。方法 回顾性分析38例BP患者的临床资料、组织病理及直接免疫荧光（DIF）检查结果。结果 38例BP患者中,男性23例,女性15例;患者发病年龄为36～88岁,平均发病年龄（68.32±13.85）岁;35例患者Nikolsky征检查为阴性。组织病理表现为表皮下裂隙及水疱形成,疱壁表皮完整,未见棘层松解。DIF检查显示表皮、真皮交界处基底膜带出现绿色荧光信号,C3、IgG于基底膜带呈线状沉积。结论 中老年患者皮肤出现紧张性水疱,应考虑BP可能,临床表现、组织病理、免疫荧光检查相结合能有效提高BP诊断的准确率,有效地防止漏诊、误诊,值得临床推广应用。     

主动脉夹层的早期诊治

主动脉夹层（AD）常常是突然发病，病情迅速发展，临床表现复杂多变，常因误诊或漏诊迅速死亡。为提高该病的早期诊断和治疗，本文对199O年1月一1998年2月收诊的16例AD患者的临床特点分析如下。1临床资料本组16例，男13例，女3例；年龄41～62岁，De-bakeg[1]I型者10例，Ⅲ型者6例；均为急性期（发病时间仅2周以内者），高血压病10例，马凡氏综合症3例，更年期1期，无明确病因2例。临床表现为剧烈胸痛或胸背部痛10例，上腹部痛3例，疼痛部位不固定2例，昏迷1例，休克1例，血压升高8例，心界扩大11例，脉搏不对称2例。全部病例除临床表现外…     

妊娠合并主动脉夹层6例回顾性分析

目的 探讨妊娠合并主动脉夹层的临床表现、诊断及治疗.方法 选取河南省人民医院于2015年1月至2020年12月收治的妊娠合并主动脉夹层患者6例,对其临床资料、治疗方案和母儿结局进行回顾性分析,探讨不同手术时机对妊娠合并主动脉夹层结局的影响.结果 6例年龄30～38岁,平均32.16岁.发病时间为孕5周至产后1个月,孕早...     

多发性硬化178例临床特点分析

目的分析178例多发性硬化（multiple sclerosis,MS）的临床表现特点,旨在提高对Ms的诊断水平。方法回顾性分析178例MS患者的临床资料。结果MS好发于女性（61．2％）,发病年龄9～69岁（平均38岁）,多呈急性或亚急性发病（80．9％）,病前多有诱因（51．1％）,首发症状多样,以肢体无力、感觉障碍、视力障碍最多见;头颅MRI显示病变多位于大脑半球、脑干等处。结论MS好发于中青年女性,临床表现复杂多样,病变多累及视神经,结合MS的临床表现和相关检查,可提高对MS诊断的准确性,及时治疗,以改善患者的预后。     

Wohlfart-Kugelberg-Welander syndrome: serum creatine kinase and functional outcome

The medical records of 31 patients (19 male and 12 female) with clinical and electrophysiologic features of Wohlfart-Kugelberg-Welander syndrome were reviewed. The reported age at onset ranged from less than one year to 46 years, and the age at diagnosis ranged from three to 66 years. Proximal muscle weakness, especially of the lower extremities, and muscular atrophy were the predominant clinical features. Elevated serum creatine kinase levels were noted in four female and 12 male patients, and the degree of elevation was higher in the male patients (up to 32 times the upper limit of normal) than in the female patients. On initial evaluation, two patients were wheelchair-bound, whereas the others were ambulatory. On follow-up evaluation three to 32 years later (mean, 15.5 years), 11 patients used wheelchairs, although only three were wheelchair-bound. The disease followed a steady, slowly progressive course. The outcome of ambulatory status did not correlate with the initial creatine kinase determination.     

46例女性强直性脊柱炎临床分析

目的：探讨女性强直性脊柱炎患者的临床特点。方法：回顾性分析华西医院风湿免疫科2003年1月1日至2009年1月1日住院收治的女性强直性脊柱炎患者住院病历共计46例,抽取与女性患者入院时间及病程大致相等的男性病历40例,记录发病年龄、病程、首发症状、临床表现、实验室检查,并对两组数据进行比较,调查女性患者中血小板计数与血沉、C-反应蛋白、球蛋白的相互关系。结果：发病年龄女性组为（30±11）岁,男性组为（24±7）岁（P=0.003）;首发症状、主要临床表现、关节活动受限和病情活动指标在两组无统计学差异（P〉0.05）。相关分析显示,血小板计数与C-反应蛋白、血沉、球蛋白分别存在较好的正相关关系（C-反应蛋白：r=0.608,P=0.000;血沉：r=0.558,P=0.000;球蛋白r=0.411,P=0.005）。女性组中HLA-B27阳性患者与阴性患者的年龄差异无统计学意义（P〉0.05）。结论：女性强直性脊柱患者的发病年龄大于男性,患者的血小板计数有助于评价病情活动。     

104例痉挛性斜颈临床特点及A型肉毒毒素疗效分析

目的:分析104例痉挛性斜颈的临床特点、A型肉毒毒素的临床疗效及其与临床特点相关性。方法:回顾分析我院2012年1月至2019年12月住院的符合痉挛性斜颈诊断标准的患者104例,统计患者临床特点;分析A型肉毒毒素疗效在不同性别、年龄、体质指数、教育年限、病程、临床分型、注射次数、注射总量、平均每次注射剂量、注射方式各方面的差异性及治疗后不良反应的发生情况。结果:痉挛性斜颈患者男:女=1:1.36,年龄以40~50岁为主,且以40~50岁发病较多,病程(56.84±82.19)个月,发病到确诊间隔时间(22.75±57.44)个月,疾病早期易误诊为颈椎病;易合并精神情绪类疾病;其病因与劳累、情绪异常、饮酒和相关部位的外伤等有关,69.23%的患者在日常生活中起病,64.42%患者情绪激动、劳累或者行走时症状明显;A型肉毒毒素治疗有效率97.22%,A型肉毒毒素疗效与年龄、性别、体质指数、教育年限、病程、临床分型、注射次数、注射总量、平均每次注射剂量之间均无统计学差异(P>0.05);不良反应发生率10.58%。结论:痉挛性斜颈女性多于男性,年龄多在40~50岁;痉挛性斜颈的临床诊断较困难,病程长,发病多与劳累、情绪等因素有关,早期应防止误诊。A型肉毒毒素治疗痉挛性斜颈有效率较高且不良反应较少,多次注射未见疗效明显降低,但是否有其他影响因素不能肯定。     

50例散发性肌萎缩侧索硬化临床表现分析及文献复习

目的：探讨散发性肌萎缩侧索硬化（SALS）的临床特征,为早期准确诊断SALS提供依据。方法：回顾性研究近年来作者收治的50例散发性肌萎缩侧索硬化患者的临床表现,对其发病特点、症状、体征及实验室检查进行统计分析。结果：SALS在临床上隐袭起病,缓慢进展,50岁前后发病,平均年龄50.4岁,20岁以前70岁以后发病少见,平均病程3.5年。男性显著多于女性。首发症状为单侧上肢远端肌肉无力和肌肉萎缩最常见,其次为球麻痹、肌束震颤、锥体束征,少数出现肢体麻木/疼痛/发凉等感觉异常。上肢远端为好发病部位,其次为延髓支配肌肉。临床主要症状是肢体无力、肢体和舌肌肌肉萎缩、锥体束征、肢体和舌肌肌束震颤。舌咽/迷走神经运动核最常受累,舌下神经、副神经、面神经等运动核也多见损害,其余颅神经罕见损害。无明显诱因。所有SALS侵害的部位均表现神经源性损害,胸锁乳突肌肌电图检查、头颅/脊髓CT和MRI检查、肌肉活检有鉴别诊断意义。结论：目前SALS的诊断仍然依靠临床表现。肌电图、肌肉活检是SALS诊断和鉴别诊断的重要辅助手段。     

Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases

It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begins before 20 years of age in most patients. In this study, we aimed to investigate the demographic and clinical characteristics of our FMF patients with an age of onset > or =20. Records of 401 patients (female/male: 204/197) that followed up between 1990 and 1999 were reviewed according to a pre-defined protocol. All patients fulfilled the diagnostic criteria of Livneh et al. The demographic and clinical features of adult-onset FMF patients were compared to those of patients with a disease onset before 20 years of age. There were 57 patients (14%) who experienced symptoms of FMF at > or =20 years of age; 34 of them (8.5%) reported their first attack between 20 and 29 years of age; 18 of them (4.5%) between 30 and 39 years of age and five patients (1.25%) had their first attack after 40 years of age. Arthritis (42 vs. 65%, p = 0.001) and erysipelas-like erythema (7 vs. 17%, p = 0.047) were significantly less frequent in patients with adult-onset FMF compared to patients with disease onset before 20 years of age. Arthritis and erysipelas-like erythema were less frequent in adult-onset patients compared to those with an earlier disease onset. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. Prospective clinical studies and investigation of genotypic features are needed to identify the characteristics of this phenotypic variant.     

Association of family history of epilepsy with earlier age at seizure onset in patients with focal cortical dysplasia

OBJECTIVE: To establish the contribution of family history of epilepsy to seizure onset in patients with focal cortical dysplasia (FCD). PATIENTS AND METHODS: From January 1998 to January 2001, we prospectively evaluated 19 consecutive patients (10 male, 9 female) with a diagnosis of FCD based on magnetic resonance imaging. All patients and at least 1 family member were directly interviewed by the same observer after completion of a semistructured questionnaire. Initially, we classified patients into 2 groups: presence or absence of family history of epilepsy. Patients with a family history of epilepsy were subdivided into 2 groups: patients with a family history of epilepsy in first-degree relatives or multiple relatives (n=5) and patients with a family history of epilepsy in relatives who were not first-degree (n=4). Statistical analysis was performed with use of the nonparametric tests Kruskal-Wallis and Kaplan-Meier (survival analysis). P=.05 was considered statistically significant. RESULTS: The ages of the patients ranged from 3 to 41 years (mean, 15.6 years). All patients had similar type and extent of cortical dysgenesis. Ages at seizure onset varied from 1 month to 22 years, with a mean of 5.8 years. Nine patients had a family history of epilepsy. The mean age at the first seizure in patients with a family history of epilepsy was 2.6 years compared with 8.5 years in those with no relatives having epilepsy (P=.02). When patients with a family history of epilepsy were classified further, the mean age at first seizure was 1.9 years for patients with a family history of epilepsy in first-degree or multiple relatives and 3.9 years for patients with a family history of epilepsy in relatives who were not first-degree compared with 8.5 years for patients with no family history of epilepsy (P=.04). CONCLUSION: Our results show that a family history of epilepsy is associated with an earlier age at seizure onset in patients with FCD. Although this is a preliminary finding and a larger sample is needed to confirm these results, we believe these observations provide evidence that genetic modifiers could become an important issue in the clinical presentation of patients with dysplastic lesions.     

Characteristics of patients with late onset systemic lupus erythematosus in Turkey

Systemic lupus erythematosus (SLE) is a multi-system autoimmune disorder mainly affecting young women. In this study, we aimed at investigating the clinical, laboratory and management characteristics of our SLE patients with an age of onset > or =50. Twenty patients with late onset SLE (> or =50 years) were identified from the records, on the basis of their first SLE-related symptoms (Group I). A hundred consecutive SLE patients with initial symptoms before the age of 50 were also selected as controls (Group II). Clinical, laboratory and management characteristics of the patients were recorded according to pre-defined protocol and compared by chi(2), Student's t-test and Fisher's exact test. Comparison of the demographic findings between the Group I (F/M: 18/2) and the Group II (F/M: 90/10) were as follows: the mean age of disease onset was 53.9 +/- 4.5 years vs. 26.3 +/- 9.2 years, mean time of follow-up was 44.2 +/- 40.5 months vs. 50.1 +/- 47.4 months, mean damage index was 0.6 +/- 0.6 vs. 0.58 +/- 1.4. There was no significant difference between the two groups with regard to clinical, laboratory parameters, damage index and immunosuppressive treatment characteristics. SLE-related manifestations were similar in two groups except fever (10% in the Group I vs. 41% in the Group II; p = 0.01). The only two patients with pulmonary fibrosis were found in the Group I (p = 0.027). The clinical and laboratory characteristics and the disease outcome in SLE patients with an age of onset > or =50 years did not show significant differences from the control SLE patients with a younger age of onset.     

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

Aims: Fabry disease (FD) is an X‐chromosome‐linked transmitted lysosomal storage disorder as a result of the deficient activity of enzyme α‐galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Europe. Methods: Baseline clinical data of 92 patients (41 males and 51 females) are described and analysed globally and according to gender. We compare the data of Spanish patients with those previously published from the rest of Europe patients in FOS. Results: Mean age of onset of symptoms in men was 20, and 24 years in women, with a mean delay of 11 years to the diagnosis in both genders. The predominant clinical involvement in male patients was renal (69%), cardiac (66%) and neurological (60%), and for female patients, it was neurological (42%), cardiac (33%), keratopathy (30%) and nephropathy (28%). Disease severity was significantly higher in male patients. Compared to the rest of European FOS‐patients, Spanish patients were diagnosed at an earlier age with a smaller proportion of disease‐related involvement for most organ irrespective of gender, though not its global severity in male patients. Conclusions: We present the largest cohort of Spanish patients diagnosed with FD. The pattern of involvement (though not its global severity) could be different in Spanish patients in comparison with others from Europe. Expanding the knowledge of FD will permit early diagnosis as well as the possibility of starting the specific treatment.     

不同性别急性心肌梗死临床特点分析

目的 了解不同性别急性心肌梗死的临床特点,以提高防治效果。方法对我院2004年3月至2007年3月收治的429例急性心肌梗死（AMI）患者,进行性别分析,按患者年龄分为4组：（〈45岁,45～54岁,55～64岁,〉165岁）比较发病率、发病年龄、发病至入院时间、合并症、并发症、支架植入术（PCI）例数。结果4组男女患者比例分别为11：1,25：1,2．47：1和1．16：1。女性较男性平均发病年龄晚10年,女性患者行PCI例数少于男性。绝经后女性糖尿病发病率增加,心源性休克发生率也明显增加。结论绝经后女性雌激素水平下降对老年女性AMI的临床特点有重要影响。应提供女性对AMI的认识,及时、合理、积极的治疗AMI。     

抗磷脂综合征临床特征分析

目的探讨抗磷脂综合征（APS）的临床特征和实验室检查特点。方法回顾性分析总结2009年1月-2012年1月26例APS患者的临床表现和实验室检查。结果患者共26例,男8例,女18例。原发性APS7例,继发性APS19例,其中继发系统性红斑狼疮11例。21例血栓形成患者中静脉血栓16例,动脉闭塞7例,其中静脉血栓和动脉闭塞同时存在2例。血栓事件以下肢深静脉血栓、脑梗死为常见。在16例已婚女性中7例出现病态妊娠,4例为习惯性自发性流产。57．7％患者出现血小板下降,69．2％患者不同程度血红蛋白下降。结论APS以血栓形成及病态妊娠为特点。其临床表现具有多样性。早期诊治是改善预后的关键。