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Jiao-Jiao Guo Zi-Yi Wang Meng Wang Zong-Zhi Jiang Xue-Fan Yu 《World Journal of Clinical Cases》2020,8(23):6122-6129
BACKGROUNDNeuronal intranuclear inclusion disease (NIID) is an unusual autosomal dominant, chronic progressive neurodegenerative disease. The clinical manifestations of NIID are complex and varied, complicating its clinical diagnosis. To the best of our knowledge, this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis (AC) that was finally diagnosed by imaging studies, skin biopsy, and genetic testing.CASE SUMMARYA 63-year-old man presented with fever, gait unsteadiness, dysarthria, and an episode of convulsion. His serum levels of white blood cells and C-reactive protein were significantly elevated. T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis. While we initially considered a diagnosis of AC, the patient’s symptoms improved significantly without special treatment, prompting our consideration of NIID. Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction. Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells. GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID. CONCLUSIONFor patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations. 相似文献
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目的探讨女性绝经后2型糖尿病(T2DM)患者凝血功能和血脂水平的变化及其与血管并发症的关系。方法分别检测(T2DM)组(n=205)和对照组(n=105)血浆凝血酶原时间(PT)、活化部分凝血酶原时间(APTT)、凝血酶时间(TT)、纤维蛋白原(FIB)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-c)、低密度脂蛋白胆固醇(LDL-c)和甘油三酯(TG)。结果 (1)T2DM组与对照组比较,无血管病变者PT、APTT显著下降(t=2.139、1.982,P0.05),FIB显著上升(t=2.138,P0.05);伴血管病变组PT、APTT和TT均显著下降(t=8.554、6.263和4.852,P0.01),FIB水平显著上升(t=3.537,P0.01)。(2)T2DM组与对照组比较,无血管病变和伴血管病变组TG、TC和LDL-C均显著升高(t=2.226、2.096和2.223,P0.05;t=4.940、3.055和3.106,P0.01),T2DM组组内比较,6.256,P0.05)。结论分析凝血四项和血脂水平对把握病情、诊断血管病变、指导治疗及预防糖尿病并发症有重要意义,故应尽早实施监测。 相似文献
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Background: Cannabis is the most widely used illicit drug in the United States and Europe. In recent years, a range of new substances with cannabis-like effects—known as synthetic cannabinoids (SCs)—have suddenly burst on the drug scene. However, there is limited information about the clinical hazards linked to the use of these emerging substances. This review summarizes the literature to date relating the health effects of SCs. Method: A systematic literature review of original case studies was performed using PubMed and Web of Science (January 1980–July 2015). Only articles in which a drug screening was reported were included in this review. Results: Forty-six articles meeting the inclusion criteria were included in this review, reporting data on 114 patients who went to hospital emergency departments after exposure to SCs. The majority of patients were adolescent or young adult males (14–25 years; 24.5 ± 10.1 years). The most common route of administration was smoking. The SCs most involved were John William Huffman (JWH) derivatives, followed by XRL-11, ADB-PINACA, AM-2201, MAM-2201, and 5F-PB-22. This analysis showed that the use of these substances may cause minor and moderate side effects similar to those of cannabis intoxication, including tachycardia, nausea, somnolence, hallucinations, paranoia, xerostomia, and injected conjunctivae among others. However, atypical cannabis intoxication effects and worse complications (such as renal injuries, aggressiveness, cerebral ischemia, myocardial infarction, etc.) were also observed, which led to a significant morbidity were also observed. Some SCs were highlighted as being involved in 24 cases of deaths. Conclusions: In this review, the nature and frequency of the signs and symptoms of SC poisoning were estimated in order to inform health professionals about the health risks of these new and emerging substances. 相似文献
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目的探讨窒息缺氧后对足月儿肾功能的影响。方法选择福建省立医院重症新生儿科收治的足月窒息新生儿121例,根据患儿窒息程度分为重度窒息组30例和轻度窒息组91例;同时选择正常足月新生儿100例作为健康对照组。采用肌氨酸氧化酶法测定其血肌酐(SCr)水平并记录患儿24h尿量,根据急性肾损伤的诊断标准:SCr≥健康新生儿均值50%以上(即SCr60μmol/L),或尿量0.5 ml·kg~(-1)·h~(-1)达6h以上来评估肾功能。根据脐动脉血气分析,将重度窒息患儿进一步分为合并严重酸中毒组和无严重酸中毒组。比较窒息足月儿(包括轻度窒息组和重度窒息组)与健康对照组急性肾损伤的发生率;比较重度窒息合并严重酸中毒组与重度窒息无严重酸中毒组的急性肾损伤发生率。结果轻度窒息组、重度窒息组、健康对照组、重度窒息合并严重酸中毒组和重度窒息无严重酸中毒组急性肾损伤的发生率分别为38.5%(35/91),80.0%(24/30),1.0%(1/100),100%(13/13),64.7%(11/17)。轻度窒息组与重度窒息组急性肾损伤发生率进行比较差异有统计学意义(P0.05);轻度窒息组急性肾损伤发生率明显高于健康对照组(P0.05);重度窒息组急性肾损伤发生率明显高于健康对照组(P0.05);提示窒息程度越重,肾功能受损发生率越高,受损程度越严重。重度窒息合并酸中毒组急性肾损伤的比例明显高于重度窒息无严重酸中毒组(P0.05)。预后不良9例,其中死亡3例,因病重放弃治疗6例,预后不良率为15.3%。结论足月新生儿窒息会导致肾功能损害。结合脐动脉血气分析判断窒息严重程度,合并严重酸中毒的患儿急性肾损伤发生率更高。应尽早认识急性肾损伤,及早诊断和治疗,降低病死率。 相似文献
999.
Shanie Saghafian-Hedengren Ismael Söderström Eva Sverremark-Ekström Anna Nilsson 《Blood reviews》2018,32(1):71-80
Acute lymphoblastic leukaemia (ALL) is the most common type of cancer in children, accounting for approximately 25% of childhood cancer cases. As a result of effective treatments over the past decades, paediatric ALL mortality has been greatly reduced. Chemotherapy, however, has a range of harmful side effects including the loss of protective antibodies against vaccine-preventable diseases. Since ALL survivors have an increased risk of health problems including organ insufficiencies, acquired vaccine-preventable infections subsequent to clinical remission could become life threatening to these individuals. This review will summarize clinical findings regarding defective humoral immunity in ALL survivors, identify current knowledge gaps and highlight mechanisms related to deficiencies in the B-cell compartment important for serological memory. Further, we illuminate the emerging evidence for a relationship between chemotherapy and gut microbiota, which could play an important role in vaccine responses and the shaping of a young immune system subjected to maturation and recovery. 相似文献
1000.
《Surgery (Oxford)》2021,39(8):523-528
Radiculopathy is a commonly encountered symptom in neurosurgical practice. This article discusses the clinical presentation, anatomy, pathophysiology and treatment of radiculopathy, neurogenic claudication and cauda equina syndrome. 相似文献