Guillain-Barré syndrome

Guillain-Barré syndrome is the most common paralytic illness affecting children and adolescents in countries with established immunization programs. The term is currently used to encompass a group of disorders in which an autoimmune response occurs days or weeks after an antecedent infection or event (e.g., immunization) and results in an acute polyradiculoneuropathy with flaccid weakness, areflexia, and increased cerebrospinal fluid protein. This chapter reviews the epidemiology, clinical presentation, diagnostic criteria, pathogenesis, treatment, and outcome of this condition.     

Kearns-Sayre syndrome的临床研究

目的探讨Kearns-Sayre syndrome（KSS）的临床诊断及治疗方法。方法对2006年8月和2007年12月本院收治的2例Kearns—Sayre syndrome患儿的临床表现、诊断依据、实验室检查结果进行研究,并对随访1年的结果进行分析总结。结果2例患儿均表现为20岁前发病、慢性进行性眼外肌麻痹、视网膜色素变性Kearns—Sayre syndrome三联征及心脏传导阻滞、脑脊液蛋白升高,同时伴小脑共济失调、听力损伤、智力低下等临床症状。病例1确诊后放弃治疗出院,1年后身高、智力较同龄人低下,肌无力进行性加重。病例2给予心脏起搏器安置后,起搏器工作良好,1年内身高增长约8cm,与同龄儿比较,生长速率无明显差异,肌无力症状无明显加重,生活质量改善。结论对于20岁前发病、慢性进行性眼外肌麻痹、视网膜色素变性的Kearns—Sayre syndrome三联征患者,并具备以下3点之一：心脏传导阻滞、脑脊液蛋白含量升高（〉100mg／dL）[正常值为（20～40）mg／dL]、小脑共济失调,即可作出Kearns—Sayre syndrome的临床诊断,肌活检及基因检测,可进一步支持和确诊Kearns—Sayre syndrome。对该病患儿进行早期对症治疗可明显改善预后。     

25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI

INTRODUCTION: In 1978 the authors studied a male gypsy child with a multiple malformation syndrome. In this gypsy colony further five cases were found with similar features. The characteristic syndrome was published in 1980. Subsequently, the syndrome has been quoted as Váradi-Papp syndrome. AIM: To present the 25-year follow-up of this multiple malformation syndrome. RESULTS: The most common features of 29 affected children with this syndrome consists of orofacial (facial dysmorphism, cleft lip and/or palate abnormality, lingual nodule or tumor of the tongue, buccoalveolar frenula, alveolar and dental abnormalities, strabismus), cerebral/cerebellar (deformation of the skull, semilobar holoprosencephaly and/or absence or dysgenesis of cerebellar vermis or corpus callosum or hypothalamus or pituitary gland), digital (metacarpal abnormalities with central polydactyly, reduplication of the big toes) and genital (cryptorchidism, micropenis) anomalies. The patients are growth-retarded and when survival occurs psychomotor retardation is present. Accumulation of consanguinity and because of the involvement of multiple siblings in these families supports the autosomal recessive inheritance. CONCLUSION: Fetal Váradi-Papp syndrome using ultrasonography in the mid-trimester both in routine screening and detailed scanning can be detected, and termination of pregnancy can be offered to the parents.     

Metabolic syndrome in carbon disulfide-poisoned subjects in Korea: does chemical poisoning induce metabolic syndrome?

Objective  Mass carbon disulfide (CS₂) poisoning was reported at a viscose rayon factory in Korea. We evaluated the association between CS₂ poisoning and the prevalence of metabolic syndrome. Methods  The cases (n = 170) involved CS₂-poisoned subjects, who participated in a health examination conducted at a hospital in Korea in 2005. The controls (n = 170) were selected randomly from the participants in the third Korean National Health and Nutrition Examination Survey. Metabolic syndrome was defined as having at least three of following metabolic abnormalities: abdominal obesity, elevated triglyceride, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose levels. Results  After adjusting for covariates (age, gender, education, marital status, alcohol consumption, and smoking), CS₂-poisoned subjects had an increased risk of metabolic syndrome (prevalence ratio 1.57, 95% CI 1.25–1.98). Conclusions  The findings suggest that CS₂ poisoning may increase the risk of metabolic syndrome.     

Are metabolic risk factors one unified syndrome? Modeling the structure of the metabolic syndrome X

The metabolic syndrome, manifested by insulin resistance, obesity, dyslipidemia, and hypertension, is conceived to increase the risk for coronary heart disease and type II diabetes. Several studies have used factor analysis to explore its underlying structure among related risk variables but reported different results. Taking a hypothesis-testing approach, this study used confirmatory factor analysis to specify and test the factor structure of the metabolic syndrome. A hierarchical four-factor model, with an overarching metabolic syndrome factor uniting the insulin resistance, obesity, lipid, and blood pressure factors, was proposed and tested with 847 men who participated in the Normative Aging Study between 1987 and 1991. Simultaneous multi-group analyses were also conducted to test the stability of the proposed model across younger and older participants and across individuals with and without cardiovascular disease. The findings demonstrated that the proposed structure was well supported (comparative fit index = 0.97, root mean square error approximation = 0.06) and stable across subgroups. The metabolic syndrome was represented primarily by the insulin resistance and obesity factors, followed by the lipid factor, and, to a lesser extent, the blood pressure factor. This study provides an empirical foundation for conceptualizing and measuring the metabolic syndrome that unites four related components (insulin resistance, obesity, lipids, and blood pressure).     

Guillain-Barré syndrome, greater Paris area

We studied 263 cases of Guillain-Barré syndrome from 1996 to 2001, 40% of which were associated with a known causative agent, mainly Campylobacter jejuni (22%) or cytomegalovirus (15%). The cases with no known agent (60%) peaked in winter, and half were preceded by respiratory infection, influenza-like syndrome, or gastrointestinal illness.     

Cushing’s syndrome as a cause of secondary obesity and metabolic syndrome: a case report

We describe the case of a woman affected by morbid obesity associated to type 2 diabetes mellitus (T2DM), hyperlipidaemia and hypertension, configuring a picture of metabolic syndrome (MS). Hormonal investigations revealed that her MS was secondary to the presence of a cortisol-producing left adrenal adenoma. After monolateral adrenalectomy, the MS subsided. Excessive and sustained hypercortisolism gives rise to the entire spectrum of MS. As some clinical manifestations of MS and Cushing’s syndrome (CS) overlap, it is important to consider CS as a possible cause of secondary MS, in order to avoid a delay in diagnosis and proper treatment, which exposes the patient to an increased risk of morbidity and mortality.     

Multiple chemical sensitivity syndrome in Sjögren's syndrome patients: casual association or related diseases?

Multiple chemical sensitivity (MCS) is defined by multiple symptoms, affecting multiple organs, that wax and wane in response to varying chemical exposures at or below previously tolerated levels. Sj?gren's syndrome (SS) is a common autoimmune disease affecting 3% of women aged over 55 years. Except for keratoconjunctivitis sicca (which is associated with SS not MCS), systemic features are common between the 2 diseases, leading to considerable morbidity and, occasionally, mortality. The authors report 3 cases of association between SS and MCS. Three women who were diagnosed with SS showed MCS symptoms and also were diagnosed with MCS. Further studies are needed to understand physiopathogenic mechanisms that eventually may be revealed as common to the 2 syndromes.