克罗恩病的临床多样性

目的：分析克罗恩病临床表现的多样性及误诊的主要原因，方法：对最近5年收治的30例患者的临床表现，内镜及实验室检查结果，结合文献报道，分析克罗恩病临床特点与误诊原因。结果：患者以青中年为主，女略多于男，病变侵犯胃肠道任一部位，呈节段性分布，常同时侵犯多个部位，结肠及小肠最多；腹痛与腹泻为主要的肠道症状，但尚有低热，消瘦，贫血及皮肤，关节与肝周等多系统症状。内镜有跳跃式分布的溃疡、息肉、狭窄或卵石样改变等破坏与增强病变并存在的特点，活检 肉芽肿检出率为30．8％。B超可探查出肠道并发症，误诊原因包括对本病认识不足；肠道病变多部位性，致使临床症状多样化；过于强调病理学检查及肉芽肿的诊断意义等。药物与手术治疗（16例）均收到积极疗效。结论：本病发病数明显增多，临床表现缺乏异性；内镜联合活检，加强临床与病理医师沟通是及时，正确诊断的关键。     

Fascioliasis: 3 cases with three different clinical presentations

Fascioliasis, which is a zoonotic infestation caused by the trematode Fasciola hepatica (liver fluke), is primarily a disease of herbivorous animals such as sheep and cattle. Humans become accidental hosts through ingesting uncooked aquatic plants such as watercress. It presents a wide spectrum of clinical pictures ranging from fever, eosinophilia and vague gastrointestinal symptoms in the acute phase to cholangitis, cholecystitis, biliary obstruction, extrahepatic infestation, or asymptomatic eosinophilia in the chronic phase. However, it may often be overlooked, especially in the acute phase, because of vague symptoms. As a result of newly introduced serological assays facilitating the diagnosis, there has been an increase in the number of reported cases. Here, we report the clinical and laboratory assessment and therapeutic approach of a series of three cases diagnosed (in order of) one week, three months and one and a half years after presentation of the first symptoms of the disease.     

Inflammatory bowel disease. Medical therapy of specific clinical presentations

Ulcerative colitis and Crohn's disease are chronic relapsing inflammatory disorders of the gastrointestinal tracts. The inflammatory process is restricted to the mucosa and submucosa of the colon in ulcerative colitis and is transmural and may occur anywhere in the gastrointestinal tract in Crohn's disease. Clinical presentation of these inflammatory disorders depends on the segments of digestive tract affected and on the extent and aggressiveness of the disease process. The treatment of specific clinical presentations of these disorders is discussed in this article.     

Non-alcoholic fatty liver disease and obesity: Biochemical,metabolic and clinical presentations

Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the world. Presentation of the disease ranges from simple steatosis to non-alcoholic steatohepatitis (NASH). NAFLD is a hepatic manifestation of metabolic syndrome that includes central abdominal obesity along with other components. Up to 80% of patients with NAFLD are obese, defined as a body mass index (BMI) > 30 kg/m². However, the distribution of fat tissue plays a greater role in insulin resistance than the BMI. The large amount of visceral adipose tissue (VAT) in morbidly obese (BMI > 40 kg/m²) individuals contributes to a high prevalence of NAFLD. Free fatty acids derived from VAT tissue, as well as from dietary sources and de novo lipogenesis, are released to the portal venous system. Excess free fatty acids and chronic low-grade inflammation from VAT are considered to be two of the most important factors contributing to liver injury progression in NAFLD. In addition, secretion of adipokines from VAT as well as lipid accumulation in the liver further promotes inflammation through nuclear factor kappa B signaling pathways, which are also activated by free fatty acids, and contribute to insulin resistance. Most NAFLD patients are asymptomatic on clinical presentation, even though some may present with fatigue, dyspepsia, dull pain in the liver and hepatosplenomegaly. Treatment for NAFLD and NASH involves weight reduction through lifestyle modifications, anti-obesity medication and bariatric surgery. This article reviews the available information on the biochemical and metabolic phenotypes associated with obesity and fatty liver disease. The relative contribution of visceral and liver fat to insulin resistance is discussed, and recommendations for clinical evaluation of affected individuals is provided.     

Diverse clinical presentations of celiac disease in the same family.

We performed a family study to evaluate a total of 34 extended family members (8 siblings, 23 children and nephews, and 3 grandchildren) of an adult patient with celiac disease (CD), a 58- year-old male with severe neurologic involvement manifested as myoclonias. We found 3 other members affected with CD (a 44-year old sister, a 39-year old niece, and a 26-year old nephew). Two of them were completely asymptomatic and all had hypertransaminasemia. All exhibited a villous atrophy pattern of the duodenal mucosa (1 mild, 1 moderate, 1 severe). Overall family involvement was 11.8% (4/14). We wish to emphasize the need to perform extended family studies when diagnosing a case of CD, since risk is not restricted to only first-degree relatives.     

Serologic profiles as immunologic markers for different clinical presentations of lupus erythematosus

The clinical and laboratory features of 55 patients with lupus erythematosus (LE), grouped on the basis of six nuclear immunofluorescent pattern results commonly encountered in this disease were examined. Serologic profiles of antinuclear antibodies (ANA), anti-DNA and anti-ENA results can serve as immunologic markers in LE for a benign subset and two other groups with a different incidence of certain clinical characteristics.The large speckle-like thready pattern without antibodies to DNA or ENA is an immunologic marker for a benign LE subset, with generalized skin lesions with or without joint involvement only. Significant levels of the anti-DNA antibodies with the shrunken peripheral, peripheral, or leukocyte-specific ANA with a particulate pattern are markers for severe systemic involvement. The thready pattern with antibodies to ENA (Sm antigen) and leukocyte-specific ANA without a particulate pattern, with or without antibodies to DNA or ENA, indicate less severe systemic disease.     

Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis

Tuberculosis (TB) has different clinical presentations. Pulmonary TB affects only the lungs and exhibits variable anti-mycobacterial immune responses. Pleural TB is a localized disease with a strong immune response. Miliary TB is a disseminated form with poor immune response. Cytokines play a pivotal role in anti-mycobacterial response and may determine the type of TB. Thus, gene polymorphisms associated with cytokine production may be associated with clinical presentations of TB. In this study, 54 tuberculin-negative healthy controls, 81 tuberculin-positive healthy controls, 140 patients with pulmonary TB, 30 with pleural TB and 20 with miliary TB were studied. Single nucleotide polymorphisms were typed for tumour necrosis factor-alpha, interferon-gamma (IFN-gamma), transforming growth factor-beta1, interleukin-10 (IL-10) and interleukin-6 by sequence-specific primer polymerase chain reaction (SSP-PCR). Allelic, genotypic and haplotypic associations with clinical forms of TB were evaluated. IL-10 -1082 A/A genotype and IFNgamma+874 T allele were associated with pleural TB. Seventy-five extended genotypes were found; two differed between patients and controls, and two between groups of patients. Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.     

Unusual clinical presentations of brucellosis

The purpose of this paper is to draw attention to atypical presentations of brucellosis. A prospective study identified 240 consecutive patients with brucellosis admitted to our department between December 1999 and July 2002. From these cases we present 11 patients with unusual clinical presentations. Neurobrucellosis, peritonitis, pericarditis, pancytopenia, and uveitis were diagnosed in 2 patients each and 1 presented with epididymo-orchitis.     

Huge dorsolumbar cold abscess associated with Pott's disease

Pott's disease, or tuberculosis of the spine, is the most common osteoarticular tuberculosis. Among them, dorsolumbar impairment is predominant. The authors report the case of a patient with a huge cold lumbar abscess associated with Pott's disease. The patient is a 32-year-old man presenting dorsolumbar tumefaction associated with an alteration in his general condition and fever for three months. Treatment by "traditional healers" did not provide any improvement. He consulted for mild lumbar pain triggered by fatigue appearing one week before and after the failure of the traditional practitioner. The clinical examination found a temperature of 38.5°C, cachexia, mild lumber kyphosis and impressive, soft, painless and non inflammatory dorsolumbar bruised tumefaction, 40 cm high, 15 cm wide and 7 cm deep. He did not present any neurological signs. The dorsolumbar X-ray of the spine revealed a lesion associated with Pott's disease in the first and second lumbar vertebrae with pinching of the disc, punched-out lesions and osteocondensation. The ultrasound examination of the soft tissue revealed the presence of a laterovertebral collection of fluid diffusing in the subcutaneous region. The psoas major and the paravertebral muscles were not affected. A scan or MRI of the spine was not carried out. Examination of the tissue sample and drainage of the abscess confirmed the tubercular origin. Treatment with tuberculostatic drugs for 12 months associated with immobilisation resulted in a cure with sequelae of mild kyphoscoliosis vertebral statics.