Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis

A 35-year-old male with an 11-year history of intestinal pseudo-obstruction associated with an idiopathic inflammatory insult of the myenteric plexus and the presence of circulating anti-Hu antibodies developed a neurological syndrome characterized by bilateral hearing loss, deteriorating balance, an unsteady gait and difficulty in estimating distances. A similar neurological syndrome has previously been described in older patients among the paraneoplasic syndromes associated with small-cell lung carcinoma and the presence of circulating anti-Hu antibodies, but never in the rare cancer-free patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction. The patient underwent a steroid treatment. No further episodes of functional intestinal obstruction were observed and, after an initial improvement, the neurological symptoms stabilized, leaving a permanent reduction in hearing function and an unsteady gait. The case shows that an idiopathic inflammatory insult of the myenteric plexus may precede (and perhaps lead to) central nervous system impairment in patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction.     

Eosinophilic myenteric ganglionitis: a case of intestinal pseudo-obstruction in a 93-year-old female

Eosinophilic myenteric ganglionitis is a disorder characterized by infiltration of the Auerbach plexus by eosinophils. It can be associated with a bowel dysmotility and a few cases of intestinal pseudo-obstructive syndrome have been described in children. In this case report, we present an elderly 93-year-old woman who presented with episodes of functional bowel obstruction of unknown etiology. After several admissions for recurrent obstipation requiring fecal disimpaction, she had a Hartmann procedure performed with a resection of the sigmoid colon. The sigmoid colon was markedly dilated and the only significant finding on histology was infiltration of the Auerbach plexus by eosinophils. The mucosa and the muscular layers appeared unremarkable. Her symptoms resolved after the resection and the patient is currently well after 5 months. Recurrent gastrointestinal pseudo-obstruction can arise secondary to eosinophilic myenteric ganglionitis even in adults. Clinical improvement is likely if this disease entity is promptly recognized and treated.     

Dapsone neuropathy--report of three cases and pathologic features of a motor nerve

We report the clinical features, electrophysiologic findings, and dapsone and isoniazid excretion studies in three young people who ingested excessive amounts (2-4 times the prescribed dose) of dapsone for hypopigmented macules and who developed, subacutely, progressive motor neuropathy a few months later. Pathologic studies on a biopsied motor nerve confirmed the electrophysiologic conclusion of distal motor axonopathy. All made a rapid recovery in a few months after dapsone was stopped, although electrical abnormalities persisted. One patient was a rapid acetylator of isoniazid.     

合并基础疾病的严重急性呼吸综合征患者临床特征分析

目的　探讨合并基础疾病的严重急性呼吸综合征(SARS)患者临床特征和实验室指标变化特点。方法　回顾性分析2003-03~06北京地区1 291例SARS患者的病历资料,对基础疾病的分布和有、无基础疾病两组患者的年龄、性别、临床症状和体征、实验室指标以及病情严重程度进行分析。结果　伴有基础疾病的患者(A组)占27 .5% (355 /1 291),其中40岁以上的患者占65. 6%;而无基础疾病的患者(B组)占72. 5% (936 /1 291),其中40岁以下的患者占74. 6%。本组基础疾病以高血压、糖尿病和冠心病最常见。A组患者的临床症状和体征的发生率明显高于B组(P<0 .05)。在病程中A组患者的淋巴细胞和血小板以及血生化等指标异常率明显高于B组患者(P<0. 05)。A组SARS患者的重症发生率为52. 7% (187 /355)。结论　合并基础疾病的SARS患者其临床表现较重,易出现实验室指标的异常,重症发生率高。     

Oesophageal motor function in chronic intestinal idiopathic pseudo-obstruction: A study with high-resolution manometry

BackgroundChronic intestinal idiopathic pseudo-obstruction (idiopathic CIPO) is a rare heterogeneous condition for which the different phenotypes are difficult to be established. Oesophageal motility has shown to be impaired in patients with idiopathic CIPO at traditional manometry, whereas no studies have assessed it by high resolution manometry (HRM).AimsTo evaluate oesophageal motility by HRM in patients with idiopathic CIPO.Methods14 patients with idiopathic CIPO underwent oesophageal HRM. Multiple rapid swallows (MRS) were performed in order to evaluate contraction reserve. The Chicago Classification 3.0 was used to classify the oesophageal motility disorders.ResultsOne idiopathic CIPO patient had type-II achalasia, one aperistalsis and 12 had minor disorder of peristalsis (11 ineffective oesophageal motility and one fragmented peristalsis). These minor disorders were not significantly different from those of 50 other consecutive patients who underwent HRM for dysphagia or GERD and received the diagnosis of ineffective oesophageal motility. Three of the 12 idiopathic CIPO patients with minor disorder of peristalsis had no contraction reserve after MRS.ConclusionsHRM is able to identify different grades of oesophageal motor impairment in patients with idiopathic CIPO. Presence of major oesophageal dismotility or absent contraction reserve suggest a more severe and widespread motor disorder.     

3例良性复发性肝内胆汁淤积症患者临床特点分析

目的 总结和分析良性复发性肝内胆汁淤积症(BRIC)患者的临床特征。方法 回顾性分析3例在复旦大学附属中山医院诊治的BRIC患者的一般情况、临床表现、实验室检查、影像学检查、病理学检查和分子遗传学检查等临床资料。结果 3例患者均为男性,首次发病年龄小于20岁,除外其他已知的可致胆汁淤积的病因;3例患者疾病均反复发作,但具有一定的自限性,发作时有黄疸和皮肤瘙痒表现,其中2例伴大便不规律、腹胀和食欲下降;实验室检查显示血清总胆红素和直接胆红素、碱性磷酸酶和总胆汁酸水平显著升高,而γ-谷氨酰转肽酶和转氨酶水平正常或轻度升高;MRCP检查均未见有肝内外胆管异常;2例肝组织病理学检查提示肝细胞明显胆汁淤积伴毛细胆管栓塞形成;3例患者均有功能预测为“潜在有害”或致病分级为“可能致病”的ATP8B1基因突变位点检出。结论 目前,BRIC病例报道较少,发病机制未完全明确,诊断较困难。临床医生应在排除其他常见肝损伤病因后,综合分析其临床表现、辅助检查和病理学检查结果进行综合临床诊断。对于临床高度怀疑BRIC的患者,应尽早行分子遗传学检查,以明确诊断,指导治疗。     

151例亚急性重型肝炎患者临床特征与预后分析

目的分析151例亚急性重型肝炎的临床特征及其预后。方法应用SPSS 10.0及STATA软件对151例亚急性重型肝炎病人的临床特征进行回顾性分析。结果(1)亚急性重型肝炎男性发病高于女性,好发年龄>40岁;(2)亚急性重型肝炎病原仍以乙型肝炎病毒为主,其次为戊型肝炎病毒及不明原因,药物性以抗结核药物为主;(3)实验室指标TB、PT、PTR、WBC及其分类、BLA、CRE与预后成正相关,与PTA、TC、ALB、CHE、TG、PLT成负相关,与ALT、AST无相关性;(4)并发症发生率最高前3位为电解质紊乱、肝性脑病、自发性腹膜炎,病死率最高前三位为脑疝、肝肾综合征和脑水肿。结论亚急性重型肝炎好发于男性,好发年龄段为40岁以上;仍以乙型肝炎病毒为主要病原;电解质紊乱是最主要的并发症,肝性脑病发病不足50%;PT、TB、PLT、TC、ALB等可作为肝衰竭(亚急性重型肝炎)预后判断的独立指标。对于无肝性脑病的亚急性重型肝炎患者,严重的凝血功能异常是一个重要的灵敏和特异性指标。     

Clinical features of idiopathic megarectum and idiopathic megacolon.

BACKGROUND: Dilatation of the rectum and/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken of all patients operated on for these conditions over a 23 year period. In addition all patients treated over a three year period were prospectively studied by means of a questionnaire, contrast studies of the upper and lower intestine, spine x rays to exclude spinal dysraphism, anorectal physiological studies, and assessment of clinical outcome. Patients with Hirschsprung's disease and other known causes of gut dilatation were excluded. RESULTS: (i) Retrospective study: Of 63 operated patients, 22 had IMR, 23 had IMR and IMC, and 18 had IMC only. Five patients with IMC had previous sigmoid volvulus, and three had associated non-gastrointestinal congenital abnormalities. Faecal incontinence was always associated with rectal impaction and 14 patients (82%) with IMR alone had had manual disimpaction. (ii) Prospective study: Twenty two patients had IMR, with a median rectal diameter of 10 cm (normal < 6.5 cm). Six patients had IMC and one patient had IMR and IMC. Patients with IMR were significantly (p = 0.0007) younger than patients with IMC. All patients with IMR became symptomatic in childhood, compared with half the patients with IMC who developed symptoms as adults. Patients with IMR all presented with soiling and impaction, compared with patients with IMC whose symptoms were variable and included constipation or increased bowel frequency, pain, and variable need for laxatives. No upper gut dilatation was seen in either group of patients. Spinal dysraphism was seen in two of 18 patients with IMR and two of four with IMC, suggesting extrinsic denervation as a possible cause in a minority. Twelve of 22 patients with IMR had a maximum anal resting pressure below normal, indicating sphincter damage or inhibition. Both IMR and IMC patients had altered rectal sensitivity to distension, suggesting that despite lack of dilatation the rectum in IMC has altered viscoelasticity, tone, or sensory function. Fifteen of 22 patients with IMR were successfully managed with laxatives or enemas, but seven required surgery. Two of seven patients with IMC required surgery, including one for sigmoid volvulus. CONCLUSIONS: Patients with IMR differ clinically, diagnostically, and in their outcome from patients with IMC. These conditions demand specific investigation, and intensive treatment, to achieve optimum care.     

结肠淀粉样变性的临床及内镜表现:3例报道并文献复习

探讨结肠淀粉样变性的内镜表现及临床特征。分析3例典型结肠淀粉样变性患者的结肠镜及临床表现,并总结国内外已发表的病例特点。结肠淀粉样变性可以分为两型。1型为非血管受累型,为最常见表现。其中黏膜下淤血、血泡、血肿和淤血吸收消散后溃疡形成为其特征性表现。2型累及黏膜下血管,其表现与缺血性肠病相似。便血和黏膜下血肿可能是结肠淀粉样变性的临床及特征性内镜表现,对于不明原因便血的患者,进行刚果红染色活检可以帮助早期诊断。     

Clinical features of three fatal cases of non-specific interstitial pneumonia

We describe the clinical courses of the 3 fatal patients (2 females and 1 male) with idiopathic non-specific interstitial pneumonia (NSIP) among 24 patients with NSIP. Lung biopsies were diagnosed to be NSIP group II in all patients. The clinical courses from onset to death of these 3 patients were 41 months, 46 months, and 91 months. A follow-up chest CT demonstrated no apparent honey-comb formation. We found that i) about 20% of patients with NSIP died of respiratory failure, ii) in the chest CT findings, apparent honey-comb formation was rare even just before death, iii) prediction of the prognosis based on the histological findings was difficult. This is the first report to describe the clinical features of deceased patients with idiopathic NSIP; the incidence of fatal cases was considered to range from 10 to 20%.     

Clinical features and prognosis in adult-onset still's disease: a study of 104 cases

The objective of this study is to evaluate the clinical features and prognosis of adult-onset Still's disease (AOSD). One hundred and four AOSD patients who were analyzed retrospectively were enrolled in this study. Medical charts were systematically reviewed for: demographic data, clinical features, laboratory findings, treatments, and outcomes. The major clinical features were: spiking fever 100%, evanescent maculopapular rash 95%, polyarthralgia 90%, sore throat 78%, lymphadenopathy 66%, hepatosplenomegaly 57%, hydrohymenitis 30%, neutrophilia 98%, liver disfunction 62%, increased erythrocyte sedimentation rate (ESR) 96%, and hyperferritinaemia 99%. Reactive hyperplasia was shown in all patients who underwent lymph node biopsy. Ninety-five percent and 63% of the patients were treated with glucocorticoid and immune suppressant, respectively. Those with prednisone or its equivalent dosage of ≥0.8 mg/kg/d achieved quicker remission and less relapse. Persistent fever, evanescent rash, arthritis, and sore throat were the most prevalent symptoms in patients with AOSD, with laboratory findings of leukocytosis, elevated liver enzymes, elevated ESR and serum ferritin. Glucocorticoid and immune suppressive drugs are effective for AOSD; however, the relapsing rate is relatively high. High levels of white blood cells, serum ferritin and ESR, as well as glucocorticoid dosage were related to relapse.     

特发性肺含铁血黄素沉着症13例临床分析

目的 探讨特发性肺含铁血黄素沉着症的I临床表现,以提高对本病的认识.方法 回顾性分析2007年12月以前北京协和医院出院诊断为特发性肺含铁血黄素沉着症的13例临床资料.结果 13例患者中,儿童及青少年8例.成人5例;男性9例,女性4例.临床表现方面,8例出现不同程度的反复咳血.11例胸部CT检查最主要的征象为双肺弥漫病变或间质改变(9/11).其次为磨玻璃样改变(5/11),双肺弥漫或双下肺为主,也可呈中心性蝶翼状或有游走征象.再次为小结节状或粟粒状致密阴影(5/11),其他征象有细网格状影(3/11),絮状影(1/11)等.5例支气管肺泡灌洗液(bronchoalveolar lavage fluid,BALF)结果.其中BALF呈暗红色、灰褐色或血性(5/5),细胞学检查可见大量红细胞(3/5),吞噬含铁血黄素细胞(5/5).8例病理结果主要表现为肺泡腔内可见大量吞噬含铁血黄素的巨噬细胞(7/8),肺泡Ⅱ型上皮细胞增生(5/8),肺间质纤维组织增生.慢性炎症细胞聚集(5/8),肺泡间隔增厚(2/8)等.结论 特发性肺含铁血黄素沉着症常于儿童及青少年时期起病,男性多于女性.最突出的临床表现为咳血,胸部CT特征为双肺弥漫病变,磨玻璃样改变和结节状或粟粒状致密阴影.依靠肺组织活检病理进行排他性诊断是诊断该病的关键.     

106例重症急性呼吸综合征患者的临床特征与治疗总结

目的　了解重症急性呼吸综合征 (SARS)的临床特点以及探索临床有效的治疗方法。方法　用前瞻性的方法对入院的 10 6例SARS病例临床资料进行总结。结果　 10 6例患者男 5 6例 ,女5 0例 ;年龄 15～ 81岁 ,平均 (36± 10 )岁 ;多数病人都有发热 (98 1% )、畏寒 (75 5 % )、咳嗽 (71 7% )、头痛和胸闷憋气 (4 3 4 % )、腹泻 (2 4 5 % ) ,肺部有音者较少 (11 2 % )。WBC计数降低者占 34 0 % ,淋巴细胞计数减少者占 81 1% ,CD+ 4 T细胞减少者为 98 1% ,ALT增高者占 7 6 % ,血小板降低者少见(3 8% ) ;几乎所有病人在入院时或次日都有血氧分压下降 [<90mmHg(1mmHg =0 133kPa)者90 2 % ,<70mmHg者 2 8 6 % ];X线胸片表现为单侧局部肺部斑片状浸润者 34 0 % ,单侧多发肺部斑片状浸润者 11 3% ,双肺斑片状浸润者 4 6 2 %。临床治疗采取综合治疗的原则 ,包括以小剂量糖皮质激素 (甲泼尼龙 4 0～ 80mg,12h 1次 ) ,第二代头孢菌素、大环内酯类以及抗病毒药物为主 ,同时强调氧疗、对症及其基础病等的治疗。结论　SARS临床表现和实验室多样化 ,CD+ 4 T细胞测定有助于早期诊断 ,临床治疗以综合治疗为主 ,早期氧疗及小剂量激素治疗有较好的治疗效果。     

干扰素诱导的严重血小板减少性紫癜临床特点分析27例

目的:分析干扰素α(interferon α,IFNα)导致的严重血小板减少性紫癜患者临床特点.方法:检索PubMed和CNKI数据库26例及我院所见1例IFNα导致的严重血小板减少性紫癜,共27例,根据发病机制分成免疫性血小板减少性紫癜(immune thrombocytopenic purpura,ITP)及血栓性血小板减少性紫癜(thromboticthrombocytopenic purpura,TTP)2组,分析临床表现、实验室检查特点、治疗和转归.结果:ITP组24例主要表现为出血倾向,血小板显著减少,血小板抗体或血小板相关IgG明显升高,骨髓增生活跃,停IFNα及应用免疫抑制剂治疗后血小板于1-2 wk上升,预后较好.TTP组3例主要表现为发热,血小板显著减少,溶血性贫血,神经系统损害及肾脏损害.血浆置换是主要的治疗手段,预后差,死亡率高.ITP及TTP多发生在IFNα抗丙肝治疗过程中.结论:IFNα抗病毒过程中可能出现ITP或TTP两种严重血小板减少性紫癜的发生,须提高认识给予及时正确处理.     

Paraneoplastic visceral neuropathy as a cause of severe gastrointestinal motor dysfunction

The purpose of this study was to define the cause of severe gastrointestinal motor dysfunction in 7 patients with lung cancer. Six patients had small cell carcinoma and 1 patient had pulmonary carcinoid. Their ages ranged from 58 to 74 yr. All had intestinal pseudoobstruction and obstipation/constipation; 6 of 7 patients had gastroparesis; 4 of 4 patients had esophageal peristaltic abnormalities; and 2 patients had neurogenic bladders, autonomic insufficiency, and peripheral neuropathy. Five of 7 patients had dilated small bowel with 4 of them showing slow transit of barium; 2 of 7 patients had dilated colons; and 3 of 7 patients had slow colonic transit. Five patients died 4-9 mo after onset of gastrointestinal symptoms, and 2 survived. Post-mortem or surgical samples of the esophagus, stomach, small bowel, and colon showed neuron and axon degeneration and dropout, lymphoplasmacytic infiltration, and glial cell proliferation within the myenteric plexus of 6 patients. The antrum from the seventh patient had inflammatory cells within the myenteric plexus but without neuron dropout. Neuron numbers were significantly less than normal in each area of the gastrointestinal tract. Thus, we conclude that lung cancer may be complicated by severe gastrointestinal motor dysfunction resulting from visceral neuropathy of the myenteric plexus, a paraneoplastic effect of the cancer.     

老年多器官功能不全综合征临床特点分析

目的分析老年多器官功能障碍综合征（MODS）的患病特点。方法采用前瞻性的研究方法,收集2002年3月至2005年1月北京、天津、山东、河北、河南等地七所三级甲等医院545例MODS患者（老年373例,非老年172例）的临床资料,比较分析老年和非老年MODS患者的患病特点。结果老年组MODS患者的病死率、既往有慢性基础病的比例均显著高于非老年组（65．1％vs47．1％,81．5％vs41．9％,均P〈0．001）。老年组住ICU时间显著高于非老年组。老年组5个以上器官/系统功能障碍的发生率显著高于非老年组（78．6％ vs 70．3％,P=0．037）。老年组脑功能障碍的发生率明显高于非老年组（75．1％vs62．8％,P=0．003）。老年组发生肺、胃肠、脑、心、肝、肾、凝血系统功能障碍的病死率均显著高于非老年组。结论老年MODS患者病程迁延,病情重,病死率高,多合并慢性基础病,脑功能障碍的发生率高。     

Familial idiopathic adulthood ductopenia: a report of five cases in three generations

BACKGROUND/AIMS: Idiopathic adulthood ductopenia is a cholestatic liver disease of unknown etiology. Although most cases are sporadic, familial cases do occur. METHODS: We describe a series of adult-onset bile duct depletion involving five members of an extended family spanning three generations. The proband, a 49-year-old man, presented in 1989 with asymptomatic elevation of liver enzyme tests. Investigations for chronic liver disease, including endoscopic retrograde cholangiopancreatography, were negative. Findings on liver biopsy progressed from normal in 1989 to striking loss of interlobular bile ducts in 1992. Ursodeoxycholic acid has resulted in improvement of liver enzyme tests. The proband's brother required a liver transplant at age 35 for cryptogenic cirrhosis. The proband's sister, age 42, has had intermittent jaundice and elevation of liver enzyme tests since 1971. Her liver biopsy findings progressed from normal in 1975, to striking bile duct damage by 1997. The proband's 21-year-old son has elevated liver enzyme tests and a liver biopsy consistent with idiopathic adulthood ductopenia. The proband's father had a liver biopsy at age 70 for investigation of a liver mass. It revealed extensive fibrosis and striking bile duct destruction. RESULTS/CONCLUSIONS: This is the largest series of familial idiopathic adulthood ductopenia reported, and the first with multiple generations described. Genetics appears to play a role in some cases of adulthood ductopenia. Ursodeoxycholic acid may be beneficial in the treatment of this condition.     

女性特发性低促性腺激素性性腺功能减退症——附三例临床分析

特发性低促性腺激素性性腺功能减退症(IHH)是指病因不明的下丘脑或垂体病变引起促性腺激素释放激素(GnRH)或促性腺激素的缺乏,不能刺激靶性腺发育而导致第二性征异常.     

可逆性后部白质脑病综合征的临床和影像学特征:9例回顾性病例系列研究

目的 探讨可逆性后部白质脑病综合征(reversible posterior leukoencephalopathy syndrome,RPLS)的临床和影像学特征.方法 回顾性分析9例RPLS患者的临床和影像学资料.结果 继发于妊娠高血压综合征4例(44%),短肠综合征1例(11%),急性淋巴细胞白血病1例(11%)...