洞察生机

肝性脑病又称肝性昏迷,是严重肝病引起的、以代谢紊乱为基础的中枢神经系统功能失调的综合病征。其危害严重．病死率高,新英格兰医学杂志刊文指出．30％～45％的肝硬化患者会出现肝性脑病,在发生肝性脑病后1年内死亡率高达58％。因此,早期诊断及认知功能评估对于肝性脑病的防治具有重要的意义。     

洞察生机

正肝性脑病又称肝性昏迷,是严重肝病引起的、以代谢紊乱为基础的中枢神经系统功能失调的综合病征。其危害严重,病死率高,新英格兰医学杂志刊文指出,30%~45%的肝硬化患者会出现肝性脑病,在发生肝性脑病后1年内死亡率高达58%。因此,早期诊断及认知功能评估对于肝性脑病的防治具有重要的意义。南京军区南京总医院副主任医师张龙江自2003年攻读博士学位以来针对肝性脑病的神经影像学进行了长达10     

轻微型肝性脑病发病机制的研究进展

轻微型肝性脑病(MHE)是指在肝硬化患者中不能通过临床检查发现的轻度的神经认知功能障碍,其影响到社会交往、情绪行为、睡眠障碍、身体和精神症状及生活质量等下降。早期诊断与治疗可以有效改善患者的生活质量,防止其进展到临床肝性脑病(HE)具有重要的意义。近年来,众多学者在认识该疾病方面也取得了显著成果,文章就MHE的流行病学特征及其发病机制作一综述,以期为临床治疗更深入地探讨奠定理论基础。     

肝性脑病中医药治疗近况

近年来中医药在防治肝性脑病方面凸显出明显优势。为较全面的了解十几年来中医药在防治肝性脑病概况,文章收集了近十年左右相关的文献报道,通过归纳、分析、总结大量文献。先说明肝性脑病渊源,后分中医辨证论治、中药保留灌肠和其他复方治疗三个方面进行论述,以较全面地了解肝性脑病中医药治疗近况。     

肝癌介入治疗后并发症的处理

目的：探讨肝动脉化疗栓塞（TACE）治疗肝癌后的并发症及处理方法。方法：采用Seldinger技术经股动脉穿刺，将导管插至肝肿瘤供血动脉，进行一次性灌注化疗药物。结果：对68例肝癌患者进行了176次化疗栓塞，并发症有局部血肿、穿刺点出血、发热、肝区胀痛、肝脏的损害、胃肠道反应、骨髓抑制、肝性脑病、消化道出血等，只有1例因并发症死亡。结论：肝动脉化疗栓塞是治疗肝癌安全、有效的微创疗法，预防并发症，提高疗效。     

颈性眩晕诊断的研究进展

颈性眩晕即由颈部病变导致活动颈部时发生眩晕的临床综合征。目前主流观点认为颈部病变或外伤导致脊椎内外平衡失调,引起椎-基底动脉供血不全以眩晕为主要症状的临床综合征。但有学者认为眩晕的发作为并非椎动脉血流供应不全引起大脑慢性缺血性损害而导致,实际由伴行椎动脉的交感神经刺激引起,也有学者发现由颈椎间盘突出、黄韧带肥厚、颈椎失稳等原因造成的颈椎管狭窄也是引起颈性眩晕的主要因素之一[1-2]。目前,颈性眩晕的发病机制没有完全明确,能引起眩晕的病因较多,因此也容易误诊[3-4],对临床的诊断和治疗提出了一系列难题,文章就颈性眩晕的诊断作一综述。     

门冬氨酸鸟氨酸联合乳果糖治疗肝性脑病的Meta分析

目的:观察近6年来门冬氨酸鸟氨酸联合乳果糖在肝性脑病中的临床疗效。方法:选用国内权威数据库中国知识资源总库(CNKI)、维普中文期刊数据库(VIP)、万方学术期刊全文数据库等作为资料源,对其2009年6月-2016年1月正式刊载的且Jadad量表评分1分以上的13篇门冬氨酸鸟氨酸联合乳果糖治疗肝性脑病随机对照试验文献(RCTs)进行Meta分析。结果:纳入研究的主要指标为临床有效率,Meta分析提示合并后OR值为2.17,95%可信区间为4.33~13.00,菱形位于中间线的右侧,P0.00001。结论:门冬氨酸鸟氨酸联合乳果糖治疗肝性脑病的临床疗效确切,值得推广。     

拉萨地区肝硬化临床病因分析

目的：了解肝硬化在拉萨地区的流行病因学特点，探索预防和减少肝硬化发生的对策，提高人们对该病的重视和认识。方法：对我院1991年1月至2001年12月11年间收治的1439例确诊的肝硬化病例进行回顾性统计分析。结果：肝硬化的病因中以乙型病毒性肝炎居多，占45.1%；其次为乙型肝炎病毒感染合并酒精性肝损害和酒精中毒。发病年龄高峰多在38-56岁，死亡年龄多在42-63岁，死亡原因以上消化首大出血、肝性脑病、肝肾综合征为主。结论：肝硬化一旦发展为肝功能失代偿期，常常不可塑转，病情也越来越严重。提醒人们为了保持身体健康，要积极预防肝炎，不要酗酒，尤其患有肝炎后要严格禁酒。积极预防和治疗上消化出血、肝性脑病对降低肝硬化的残废率极为重要。     

帕金森病的研究进展

帕金森病（Parkinson’s disease,PD）又名震颤麻痹,是一种常见于中老年的神经变性疾病,其具体的病因、发病机制尚未完全清楚,目前也暂无法根治。本文就帕金森病的致病因素及药物治疗、手术治疗、基因治疗、细胞移植治疗等治疗方法进行综述。     

类风湿性关节炎的研究进展

类风湿性关节炎（Rheumatcid arthritis,RA）是一种以关节滑膜炎为特征的慢性全身性自身免疲性疾病,其具体的病因、发病机制尚未完全清楚,目前也暂无法根治。本文就类风湿性关节炎的致病因素及一般治疗、药物治疗、手术治疗等治疗方法进行综述。     

Hydrogen Breath Tests in Gastrointestinal Diseases

Hydrogen breath tests are widely used to explore pathophysiology of functional gastrointestinal (GI) disorders. Small intestinal bacterial overgrowth (SIBO) and carbohydrate malabsorption are disorders detected by these tests that have been proposed to be of great importance for symptoms of GI diseases. Glucose hydrogen breath test is more acceptable for diagnosis of SIBO whereas lactose and fructose hydrogen breath tests are used for detection of lactose and fructose maldigestion respectively. Lactulose hydrogen breath test is also used widely to measure the orocecal transit time for GI motility. These methods are noninvasive and inexpensive. Many patients with functional gut disorders are unaware of the relationship between diet and GI symptoms they present. In particular, patients with chronic symptoms may regard their condition as normal and may not be aware that their symptoms can be effectively managed following a proper diagnosis. Patients with symptoms of abdominal pain, bloating, flatulence and altered bowel movements (diarrhea and constipation), or with a medical diagnosis of irritable bowel syndrome or celiac disease, may have undiagnosed carbohydrate malabsorption or SIBO. Hydrogen breath tests are specific and sensitive diagnostic tests that can be used to either confirm or eliminate the possibility of carbohydrate malabsorption or SIBO in such patients. Breath tests, though valuable tools, are underutilized in evaluating dyspepsia and functional bloating and diarrhea as well as suspected malabsorption. However, because of their simplicity, reproducibility and safety of procedure they are now being substituted to more uncomfortable and expensive techniques that were traditionally used in gastroenterology.     

Trinucleotide repeats and neuropsychiatric disorders

Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually non-CAG, that are not translated. The triplet repeat intergeneration and intra-generational instability, and genetic anticipation characterize disorders. Most of the diseases caused by expanded CAG repeat share common features, which include neurodegeneration, a dominant pattern of inheritance and widespread expression of the gene products with neuronal loss restricted to distinct subset of neurons. Neurodegenerative changes associated of CAG expansion disorders is explained in terms of intra and extra cellular aggregation of mutant gene products, the insoluble nature of the protein(s) being attributed to the presence of polyglutamine stretches, hence their neurotoxic effects. methods based on poymerase chain reaction have become handy in the diagnosis of these genetic disorders. Progress in transgenic animal models for these disorders will be critical for understanding the progress of these disorders and for testing new therapeutic strategies.     

Chromosomal fragility and human genetic disorders

The first report of X-linked mental retardation correlated with the presence of marker chromosome came in 1940. It was in 1990 that the molecular basis of fragile X syndrome was deciphered. This elucidation marked the discovery of a novel process of mutation designated as dynamic mutations, resulting in the expansion of a triplet repeat sequence within the human genome. Subsequently several human genetic disorders involving triplet repeat expansion have been discovered. Almost all the disorders are known to affect the nervous system and/or the brain. This review presents an overview of fragile sites in the genome and the molecular genetics of fragile X syndrome.     

A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge

Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with decreased muscle strength and hallucinations was diagnosed with ‘catatonic depression’ and admitted to a residential mental health facility. She was referred to our hospital for further investigation 3 months later. Heteroanamnesis revealed that the symptoms had been evolving progressively over several months. Magnetic resonance imaging (MRI) of the brain showed diffuse symmetrical white matter lesions in both hemispheres. Routine laboratory tests including vitamin B12 and folic acid were normal except for a slight normocytic, normochromic anaemia. Over the next 6 weeks her symptoms deteriorated, and she became unresponsive to stimuli. A new MRI scan showed progression of the white matter lesions. The neurologist requested plasma homocysteine (Hcys) which was more than 8 times the upper limit of normal. Further testing revealed increased methylmalonic acid and the patient was diagnosed with adult-onset cobalamin C deficiency. This case illustrates that Hcys and/or methylmalonic acid should be determined in patients presenting with neuropsychiatric symptoms suggestive of vitamin B12 deficiency with a normal serum vitamin B12 to rule out a late-onset cobalamin C deficiency.     

An update on the cellular basis of atherosclerosis in hypertriglyceridemia

Chylomicrons and very low density lipoproteins (VLDL) are the major carriers of triglycerides (TG) in the plasma. Hypertriglyceridemia (HTG) which is characterized by elevated plasma TG can occur either by overproduction of VLDL triglycerides or lipoprotein particles, by the impaired catabolism of triglyceride-rich lipoproteins or a combined defect in TG metabolism. These abnormalities can result from primary (genetic) disorders or innumerable secondary effects (diet or disease). Primary causes of HTG include the familial hyperlipoproteinemias, types I,IIb, III, IV and V respectively. Secondary effects can arise due to carbohydrate, alcohol or diabetes induced HTG, obesity, chronic renal failure, nephrotic syndrome, excessive stress and trauma. Structural abnormalities and the consequent receptor mediated pathways in foam cell generation are discussed.     

Analysis of Intrinsic and Extrinsic Coagulation Pathway Factors in OCP Treated PCOS Women

Human polycystic ovary syndrome (PCOS)—a cluster of diseases displays various symptoms associated with endocrine and gynecological disorders in childbearing women. Oral contraceptive pills (OCP) being a drug of choice minimizes symptoms and complications associated with the disorder. But, the controversial data available in literature regarding use of OCPs compels us to setup a study design regarding effect of OCP treatment in PCOS subjects and the possible outcomes specifically regarding coagulation pathways. Two PCOS study groups have been selected according to Rotterdam Criteria: one with OCP treatment (n = 50) and other without any drug treatment i.e., drug naive (n = 50). Anthropometry, Biochemistry, Hormones, Insulin and various clotting factors like Factor XI, Factor V, tPA, TAT-III and D-dimer were analyzed in both groups. The results showed worsening of IR, Metabolic parameters and coagulopathy in OCP group comparative to drug naive group indicating adverse effects of the OCP treatment which puts these women at risk for number of future clinical implications especially Cardiovascular and metabolic complications.     

Faecal calprotectin in the diagnosis of inflammatory bowel disease

Suspicion of inflammatory bowel disease should be raised in any patient with chronic or recurrent abdominal pain and diarrhoea. However, symptoms of inflammatory bowel disease (IBD) overlap with functional gastrointestinal disorders and those patients may not need endoscopy. Currently, colonoscopy with multiple biopsies is considered the gold standard to establish the diagnosis of IBD. Unfortunately, patient selection for endoscopy based on symptoms is not reliable. The use of guidelines of appropriateness for endoscopy yields significantly more significant findings but the selection criteria suffer from low specificity. Calprotectin is a calcium binding protein of neutrophil granulocytes that correlates well with neutrophil infiltration of the intestinal mucosa when measured in faeces. In the last decade, a large body of evidence on the diagnostic value of faecal calprotectin has accumulated and measurement of calprotectin in faeces has been suggested as a surrogate marker of intestinal inflammation. Testing of faecal calprotectin has been highly useful to distinguish organic from functional intestinal disorders in patients with abdominal complaints. Additionally, faecal calprotectin has reliably identified colonic inflammation in patients with suspected IBD. The use of this inexpensive and widely available test in the evaluation and risk stratification in patients with abdominal complaints is likely to increase in the future.     

A Rare Case of Mucopolysaccharidosis

Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio’s disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results.     

Association of Prooxidant–Antioxidant Balance with Clinical and Laboratory Parameters and Its Relation to Different Drug Regimens in Polycystic Ovary Syndrome Women with Normal BMI

Polycystic ovarian syndrome is one of the most common hormonally leading cause infertility disorders. The effect of oxidant-antioxidant imbalance on disease progression has been studied in many disorders. The present study was aimed to evaluate prooxidant–antioxidant balance (PAB) in patients with polycystic ovarian syndrome compared to healthy subjects. We also studied the possible effect of treatment with available drugs on serum PAB. In this case–control study 100 polycystic ovary syndrome (PCOS) patients and 100 healthy individuals were enrolled in the study. The laboratory features of patients and controls like as serum LH and FSH concentration and hematological examinations were collected. PAB was evaluated by a colorimetric method. Serum PAB value was significantly higher before treatment compared to after treatment and healthy subjects. PAB values were also higher in subjects with irregular menstrual cycle compared to normal subjects. Our results represented that serum PAB values has an indirect significant correlation with serum LH concentration. We also found that drugs regimen containing spironolactone effectively reduced the serum PAB values. Our results showed that PCOS patients had increased level of PAB and treatment with spironolactone mainly decreases the level of serum PAB. Our results indicate that the measurements of PAB may be used as a potential laboratory marker for assessment of PCOS patients.