Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

Objective:  Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene ( LMNA ) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS.
Methods:  Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified.
Results:  Radiographic findings included hypodontia ( n  = 7), dysmorphic teeth ( n  = 5), steep mandibular angles ( n  = 11), and thin basal bone ( n  = 11). Soft tissue findings included ogival palatal arch ( n  = 8), median sagittal palatal fissure ( n  = 7), and ankyloglossia ( n  = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) ( P  = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms.
Conclusion:  Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS.     

Coronary heart disease: health knowledge and behaviour

Objective To determine the current level of knowledge and understanding of CHD in the general public in Northern Ireland and to identify factors that are associated with higher knowledge levels. Setting Six provincial centres in Northern Ireland. Methods The data in the present study were collected using an interview administered questionnaire. 1,000 members of the general public were interviewed face-to-face. CHD knowledge was computed as a continuous variable, i.e. higher score represents better CHD knowledge. Main outcome measure CHD knowledge in the general public in Northern Ireland. Results Study respondents displayed limited knowledge and understanding of CHD. Study respondents who achieved higher CHD knowledge scores were more likely to report: exercising for 30 min three times or more per week, paying attention to their diet, being overweight, having a family history of CHD, living in a higher socioeconomic area (according to postcode) and having attended tertiary education. Respondents in the present study while recognising the role that community pharmacists had to play in helping patients manage their prescribed medicines, did not recognise the community pharmacists?? role in other aspects of CHD detection or management. Conclusion The deficit in CHD knowledge could translate into inadequate preventative behaviour patterns and suboptimal clinical outcomes. If community pharmacists wish to become increasingly involved in public health delivery relating to CHD they need to develop effective and accessible services and promote these to the public who at present do not recognise this role of the community pharmacist.     

脑缺氧是影响严重颅脑创伤患者短期预后的独立危险因素(英文)

Background:Brain hypoxia(BH)can aggravate outcome after severe traumatic brain injury(TBI).Whether BH or reduced brain oxygen(Pbto2)is an independent outcome predictor or a marker of disease severity is not fully elucidated.Objective To analyze the relationship between Pbto2,intracranial pressure(ICP),and cerebral perfusion pressure(CPP)and to examine whether BH correlates with worse outcome independently of ICP and CPP.Methods We studied103patients monitored     

多重PCR法检测金黄色葡萄球菌耐药基因及致病毒素基因

目的：了解金黄色葡萄球菌（简称金葡菌）耐药基因及所携带致病毒素基因PVL与TSST-1的特点。方法：应用多重PCR法检测mecA基因、TSST-1基因及Py￡基因。结果：84株金 葡球经多重PCR法对其mecA基因进行检测．检出率为58．3％（49／84）。PVL基因阳性菌株的分离率为23．8％（20／84）,州￡阳性的MRSA为13株（13／49,26．5％）,PyL阳性的MSSA为7株（7／35,20．O％）,差异无统计学意义（P〉0．05）;未检出TSST-1基因。结论：金葡菌的耐药性呈上升趋势,且金葡菌可产生多种毒素,在分离金葡菌的同时,应加强其耐药基因及毒素基因的检测。     

成釉细胞瘤及牙源性角化囊肿中ICAM-1和VCAM-1的表达

目的探讨细胞间黏附分子-1(ICAM-1)和血管细胞黏附分子-1(VCAM-1)在成釉细胞瘤(AB)及牙源性角化囊肿(OKC)中的表达及其与AB、OKC病理学特征的关系。方法对38例AB、10例OKC、7例正常口腔黏膜(NOM)组织进行免疫组织化学SP法检测,结合病例病理特征进行分析。结果ICAM-1和VCAM-1在AB、OKC和NOM3组表达组间比较,具有显著统计学差异(P<0.05)。ICAM-1在AB中的阳性率达65.2%,显著高于NOM(14.3%),OKC(60.0%)与NOM未见显著统计学差异。VCAM-1在AB中的阳性血管数也显著高于OKC和NOM。ICAM-1和VCAM-1表达与AB的组织病理分型、年龄、性别和发生部位无明显相关性(P>0.05)。结论细胞黏附分子ICAM-1和VCAM-1与AB及OKC的发生、发展及细胞分化与增殖有关。     

NEWER CONCEPTS AND MANAGEMENT OF NEONATAL SEPSIS

Despite extensive research into its patho-physiology, investigations and treatment, sepsis remains an important cause of neonatal morbidity and mortality. The incidence in developing countries is 10 times that in the developed world. A large number of pro-and anti-inflammatory cytokines (interleukins, eicosanoids, tumour necrosis factor-alpha, nitric oxide) have been identified, the interplay of which leads to the Systemic Inflammatory Response Syndrome (SIRS) which can have devastating consequences on all systems of the body. In India the common organisms include Staphylococcus, E coli, Klebsiella and Candida. A number of maternal and neonatal risk factors have been identified. The initial signs and symptoms are subtle and can easily be missed. Early investigations and screening tests are important and a promising number of new tests are being studied. The gold standard for diagnosis is a positive culture from a body fluid or local source in the presence of SIRS. The threshold for starting antibiotics should be low in high-risk neonates and broad spectrum antibiotics covering the likely organisms should be given intravenously in all suspected cases in a hospital setting. This should be continued for at least 24-48 hours (till negative reports are available) in suspected cases and for 2-3 weeks in proven cases. Prophylaxis is aimed at preventing nosocomial and cross infections. Strict hand-washing, meticulous asepsis protocols, identification of high risk groups and prompt and better screening tests are essential in controlling this problem.KEY WORDS: Neonate, Sepsis, Systemic inflammatory response syndrome     

Digital colposcopy: ready for use? An overview of literature

The aims of this review were to summarise the various methods of digital colposcopy and to provide an overview of their efficacy. We conducted a literature search and focused on papers that described a technique for colposcopy, other than conventional colposcopy, and compared this with conventional colposcopy and/or histology and included digitalisation of the process. All papers have been classified in one of the following categories: digital imaging and telecolposcopy, spectroscopy, computerised colposcopy, optical coherence tomography and confocal microcolposcopy. Among the most promising developments is spectroscopy, allowing a more or less automated analysis and interpretation of the colposcopic image.     

肥胖与青少年多囊卵巢综合征

多囊卵巢综合征（PCOS）是育龄妇女常见生殖内分泌疾病。近年发现,随着儿童肥胖患病率增加,青少年PCOS发病率也逐年提高。肥胖可通过增加外周循环胰岛素水平影响PCOS发病机制,PCOS患者高雄激素血症也会增加内脏脂肪沉积。肥胖会增加与PCOS相关的代谢和心血管方面的并发症的患病风险,如胰岛素抵抗（IR）、高脂血症、高血压以及临床症状不明显的动脉粥样硬化等。早期识别青春期PCOS,有利于及时纠正、阻断其内分泌紊乱,防止近期及远期并发症发生。     

Shoulder joint: arthrographic CT and long-term follow-up, with surgical correlation

One hundred two computed tomographic (CT) arthrograms of the shoulder were retrospectively reviewed and compared with conventional double-contrast arthrograms from 101 patients (24 females and 77 males aged 9-70 years). One- to 4-year follow-up was obtained in 84 patients, 40 of whom underwent open-shoulder surgery or arthroscopy. Morphology of the normal portions of each labrum was categorized according to length, width, and tip shape. Correlation between morphology and age was weak, but abnormal labra were more common in younger patients. Conventional radiography was more accurate for detecting bony glenoid margin fractures, but CT was more accurate for detecting Hill-Sach fractures. CT was also more reliable than conventional arthrography in the detection of rotator cuff tears. Hence, few if any conventional radiographs are necessary between contrast material injection and CT imaging. A reduction in the number of images obtained will result in decreased radiation dose, less cost, and shorter examination time without loss of diagnostic accuracy.     

<Emphasis Type="Italic">TCF7L2</Emphasis>variant genotypes and type 2 diabetes risk in Brazil: significant association,but not a significant tool for risk stratification in the general population

Background  

Genetic polymorphisms of the TCF7L2 gene are strongly associated with large increments in type 2 diabetes risk in different populations worldwide. In this study, we aimed to confirm the effect of the TCF7L2 polymorphism rs7903146 on diabetes risk in a Brazilian population and to assess the use of this genetic marker in improving diabetes risk prediction in the general population.