The multiform and variable patterns of onset of orofacial granulomatosis

BACKGROUND: The recurrent chronic orofacial swelling caused by orofacial granulomatosis (OFG) can cause significant cosmetic and functional problems but can be prevented if the disease is diagnosed early and promptly treated. Although the enlargement of the lips is described to be the most common presenting complaint, the clinical onset of OFG may be characterized by minor associated mucosal and neurological manifestations, making early diagnosis very difficult or, sometimes, merely presumable. PATIENTS AND METHODS: We retrospectively analyzed the clinical manifestations of 19 patients with OFG, who were examined at our institution between 1998 and 2002, in order to determine their initial manifestations and presenting symptoms. RESULTS: A total of 10 patients showed classical recurrent enlargement of the lips (six lower; four upper) as presenting symptom. In the other nine patients, OFG onset was characterized by transient unilateral facial nerve palsy (two cases), intraoral manifestations (two cases), recurrent swelling of the periorbital area (two cases), of the chin (one case), of the zygomatic area (one case), and of the cheeks (one case). CONCLUSION: Our data underlined that OFG onset could be frequently characterized by widely variable, multiform, and temporary clinical findings. Involvement of atypical sites of the orofacial region and presence of single minor manifestations may occur as presenting symptoms, often preceding the development of traditional clinical findings.     

伴有LADD综合征的角膜缘干细胞缺乏

泪管-耳-牙-指（趾）（LADD）综合征是一种具有多种表现的常染色体显性遗传疾病。最初在1967年由Levy报道。1例双侧泪液系统缺失、杯状耳、干嘴，以及牙、手臂和指（趾）异常的单发病例。之后一些新发现的临床表现，如肾脏异常、唾液腺缺乏、先天性髋脱位、先天性裂孔疝和横膈疝、感觉性耳聋和传导性耳聋、牙发育不全、四肢异常、口腔干燥和眼干都被报道与此综合征有关。     

人血浆作为真皮支架对自体皮肤增殖的影响：组织学和免疫组织化学试验●☆

背景：组织工程是一个多学科研究的交叉学科，其目标是使人体损伤的组织和器官再生，通过这种假设，几乎所有的动物组织都可以在实验室进行培养。一般的方法是从需要移植的患者身上提取干细胞，在一定的支持条件下允许其生长、增殖、生产为可替换的组织。另一方面，寻找细胞能够互相联结并形成分层结构的合适的支持条件，如基质或支架等非常必要。目前用于烧烫伤治疗的材料有很多种，如胶原，透明质酸、纤维蛋白和聚乳酸及其共聚物。 目的：讨论以新型的生物材料自体血浆为支架对自体成纤维细胞和角质化细胞生长、扩张、增殖的影响。 设计：建立一种真皮再生的方法，将自体成纤维细胞浸于人血浆基质中，排除各种影响样本安全性和排斥反应的问题，应用同样的方法在新的真皮上获取角质化细胞。 时间及地点：实验于2008年在意大利曼多瓦C. Poma医院动物工厂完成。 材料：人角质化细胞和成纤维细胞取自1例58岁乳房切除患者的皮肤碎片。实验得到C. Poma医院独立伦理委员会批准，患者知情同意。 方法：从自体活组织皮肤样本中分离人角质化细胞和成纤维细胞，置于培养瓶中增殖，随后将自体血浆作为皮肤移植形成构造的支架，免疫和免疫组织化学特征显示与正常皮肤相似。 主要观察指标：将血浆样本用甲醛固定，埋入石蜡，苏木精-伊红染色，用显微镜进行细胞计数。所有样本均经免疫组织化学评估。 结果：在血浆基质上获得了多层规则形状的角质化细胞和成纤维细胞，基底膜的形成说明自体血浆是角质化细胞和成纤维细胞的生长、分化、扩展的良好支架，真皮和表皮细胞联结重建皮肤移植与正常皮肤无异。 结论：血浆作为角质化细胞和成纤维细胞分化、扩展的支架表现出良好的性能，同时实验还特别发现成纤维细胞浓缩血浆可以暂时替代皮肤，也是角质化细胞生长的强有力的支架。此外血浆还具有廉价，易于制备等优点。自体角质化细胞和成纤维细胞及自体血浆的应用，可以避免血种类型的免疫排斥反应。这种治疗方法给有慢性缺损并且需要连续移植的患者带来了希望。 doi:10.3969/j.issn.1673-8225.2009.47.001     

Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report.

We report the clinical, neurophysiological (comprehending electromyography, nerve conduction velocities, and multimodal evoked potentials), histological study of the nerve and muscle and the effect of vitamin E supplement in a 32-year-old case with chronic vitamin E deficiency subsequent to acquired intestinal malabsorption. An early diagnosis for an early treatment is essential in preventing severe neurological deterioration.     

The aging brain, a key target for the future: The protein kinase C involvement

The brain represents the primary centre for the regulation and control of all our body activities, receiving and interpreting sensory impulses and transmitting information to the periphery. Most importantly, it is also the seat of consciousness, thought, emotion and especially memory, being in fact able to encode, store and recall any information. Memory is really what makes possible so many of our complex cognitive functions, including communication and learning, and surely without memory, life would lose all of its glamour and purpose. Age-associated mental impairment can range in severity from forgetfulness at the border with pathology to dementia, such as in Alzheimer's disease. In recent years, one of the most relevant observations of research on brain aging relates to data indicating that age-related cognitive decline is not only due to neuronal loss, as previously thought; instead, scientists now believe that age-associated functional changes have more to do with the dysfunctions occurring over time. Within this context a prominent role is certainly played by signal transduction cascades which guarantee neuronal cell to elaborate coordinated responses to the multiple signals coming from the outside and to adapt itself to the environmental changes and requests. This review will focus the attention on protein kinase C pathway, with a particular interest on its activation process, and on the role of protein-lipid and protein-protein interactions to selectively localize the cellular responses. Furthermore, information is emerging and will be discussed on the possibility of mRNA stabilization through PKC activation. This review will also approach the issue on how alterations of these molecular cascades may have implications in physiological and pathological brain aging, such as Alzheimer's disease.     

Cavo-portal transposition in rat: a new simple model

Background  

Liver transplantation in presence of diffuse portal vein thrombosis is possible by using caval blood as portal inflow, through cavo-portal transposition. However, clinical results are heterogeneous and experimental studies are needed, but similar hemodynamic conditions are difficult to obtain, especially in small animals. Herein we describe a new simple model of cavo-portal transposition in rat.     

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

Atypical extraspinal musculoskeletal tuberculosis in immunocompetent patients: part II, tuberculous myositis, tuberculous bursitis, and tuberculous tenosynovites.

Tuberculosis involving the soft tissue from adjacent bone or joint is well recognized. However, primary tuberculous pyomyositis, tuberculous bursitis, and tuberculous tenosynovitis are rare entities constituting 1% of skeletal tuberculosis. Tuberculous tenosynovitis involves most commonly the tendon sheaths of the hand and wrist, and tuberculous bursitis occurs most commonly around the hip. The greater trochanteric bursa and the greater trochanter are the most frequent sites of tuberculous bursitis. Cases of primary tuberculous pyomyositis and tenosynovitis of the tendons of the ankle and foot are seldom reported in the radiology literature. All imaging modalities-plain radiography, bone scan, computed tomography, and magnetic resonance imaging (MRI)--provide information that is helpful in determining therapy. MRI in particular, with its multiplanar capabilities and superb contrast of soft tissue, can demonstrate the extent of the soft tissue mass and access the adjacent bones and joints. However, MRI has no diagnostic specificity in regard to tuberculosis, and in nonendemic areas, biopsy is strongly recommended. All patients in this review were permanent residents of North America or Western Europe and were immunocompetent. Examples of atypical presentations of the above entities are demonstrated.     

Awake one stage bilateral thoracoscopic sympathectomy for palmar hyperhidrosis: a safe outpatient procedure.

OBJECTIVE: To verify the feasibility and compare the results of thoracoscopic sympathectomy under local anaesthesia (LA) and spontaneous breathing vs. general anaesthesia (GA) with one-lung ventilation. METHODS: Two groups of consecutive patients underwent one stage bilateral T2-T3 thoracoscopic sympathectomy under LA (n=15) and GA (n=30) by the same surgical team for treatment of primary palmar hyperhidrosis. The groups were homogeneous for relevant demographic, physiological and clinical data, including pulmonary function. In both groups, patient's satisfaction was evaluated 24h after surgery by a simple interview and scored into five grades (1=very poor to 5=excellent), while quality of life (QOL) was evaluated by SF-36 and Nottingham's Health Profile questionnaires before and 6 months after surgery. A cost comparison between groups concerning devices, drugs, global in operating room time, medical personnel and hospital stay was also carried out. RESULTS: No operative mortality was recorded. The overall in operating room time for the whole bilateral procedure under LA was 63.55+/-10.58 vs. 86.05+/-5.75 under GA (P<0.01) and temperature increased in all patients from a baseline of 25.42+/-0.56 up to 32.15+/-0.84 degrees C. All patients undergone LA were discharged the same day after a chest roentgenogram and a short stay in the outpatient clinic. Among them three patients (20%) experienced a minimal (<30%) pneumothorax that required no treatment, while five (33.3%) had a trunk compensatory sweating that spontaneously resolved on the long run. Patients undergoing GA were discharged after a mean stay of 1.38+/-0.6 days. Among these, eight (26.6%) had prolonged trunk compensatory sweating that did not persist longer than 3 months. At a follow-up of 7.16+/-2.97 months, QOL was significantly improved with no difference between groups. The overall rate of satisfaction was greater in the LA group (P<0.05). CONCLUSIONS: In our study, awake one stage bilateral thoracoscopic sympathectomy for palmar hyperhidrosis could be safely and effectively performed as an outpatient procedure in patients refusing GA. Postoperative quality of life was equal to that in patients undergone the same procedure under GA, while patient satisfaction was better and cost were significantly reduced.