Neurofibromatosis

Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system. Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen''s disease, affects about 1 in 3500 individuals and presents with a variety of characteristic abnormalities of the skin and the peripheral nervous system. Neurofibromatosis type 2 (NF2), previously termed central neurofibromatosis, is much more rare occurring in less than 1 in 25 000 individuals. Often first clinical signs of NF2 become apparent in the late teens with a sudden loss of hearing due to the development of bi-or unilateral vestibular schwannomas. In addition NF2 patients may suffer from further nervous tissue tumors such as meningiomas or gliomas. This review summarizes the characteristic features of the two forms of NF and outlines commonalities and distinctions between NF1 and NF2.     

Differentiation and Clinical Implications of Postpartum Depression and Postpartum Psychosis

Postpartum depression and postpartum psychosis are serious mood disorders encountered by nurses working in a variety of settings. Postpartum depression refers to a nonpsychotic depressive episode, while postpartum psychosis refers to a manic or affective psychotic episode linked temporally with childbirth. The nursing profession plays a crucial role in the early identification and treatment of these postpartum mood disorders. This article explains the classification, clinical presentation, epidemiology, management, and long-term outcomes of postpartum depression and postpartum psychosis.     

Emission probabilities of γ-rays from 238Np and their use for determination of the thermal neutron capture cross section of 237Np

The relevant absolute γ-ray emission probabilities from the β-decay of ²³⁸Np were measured by means of α- and γ-spectroscopic techniques. We obtained values of (25.6±0.4)%, (8.9±0.2)% and (18.8±0.3)% for the 984.45-, 1025.87- and 1028.54-keV γ-rays, respectively, in agreement with the previous measured ones. These intensities were used to deduce the thermal neutron capture cross section of ²³⁷Np for which a value of (182.2±4.5) b is obtained higher by 11% than the recommended value.     

Reverse geometry shoulder replacement for proximal humeral metastases

The management of skeletal metastases can be challenging for the orthopaedic surgeon. They represent a significant source of pain and disability for cancer patients, adding to the morbidity of their condition. Treatment is directed at the alleviation of symptoms and the restoration of function. Metastatic involvement of the proximal humerus can be especially debilitating, having the potential to cause severe pain and loss of function. We present a report of three such cases where reverse geometry proximal shoulder replacement was used to provide a pain free functional range of movement in patients with concomitant rotator cuff disease. In all cases, significant symptomatic relief was achieved postoperatively with preservation of upper limb function. No surgical complications were noted. It is our belief that this novel surgical strategy provides a valuable and effective option for the management of proximal humeral metastatic disease in the rotator cuff deficient patient.     

Identification of candidate genes with pro-apoptotic properties by functional screening of randomly fragmented C DNA libraries

The sequences of many genomes are available; therefore, relevant methods are needed for rapid and efficient identification of functional genes. The ability of tumour cells to resist apoptosis induced by anticancer agents may decide the success of failure of tumour elimination. Although the CD95-signalling pathway is functional in tumour cells, the increased resistance of tumour cells to CD95-mediated apoptosis has been widely reported. In order to identify genes that might determine the response of tumour cells to CD95-mediated apoptosis, we modified the conventional technical knock out (TKO) strategy for isolation of genes that function in CD95-mediated apoptosis. Due to the fact that multiple different plasmids are usually introduced into the same cells, the effectiveness of the conventional TKO strategies is low. To overcome this obstacle, we replaced the conventional TKO strategy (based on stably expressed randomly fragmented cDNA libraries) with a multi-cycle selection procedure (based on transiently expressed randomly fragmented cDNA libraries with multi-cycle selection). Using this approach we could rapidly and significantly identify small numbers of antisense mRNA molecules, whose re-introduction into different tumour types confirmed their ability to block the pro-apoptotic function of their cognate genes. Thus, our modified TKO strategy provides a generally applicable procedure for the identification of functional genes with pro-apoptotic properties that may be clinically relevant to tumor therapy.     

新生儿衣原体肺炎24例临床分析

目的分析24例新生儿沙眼衣原体肺炎患儿相关临床资料,提高对新生儿沙眼衣原体肺炎的认识。方法应用实时荧光定量聚合酶链反应(PCR)检测2005年6月至2011年10月因肺炎收治复旦大学附属儿科医院新生儿科患儿呼吸道标本中的DNA,回顾性分析24例患儿的病史特点、临床表现、实验室检查、影像学特点、治疗及转归情况。结果新生儿沙眼衣原体肺炎主要表现为阵发性咳嗽、无热或低热、外周血嗜酸性粒细胞计数增高及X线胸片双肺广泛间质和(或)肺泡浸润,予红霉素或阿奇霉素治疗,均好转或治愈。初始误诊为肺结核5例,误诊率20.8%。结论新生儿衣原体肺炎无特异的临床及影像学表现,尤其是X线胸片易误诊为肺结核,应尽早行病原学检查,有利于及时诊治,减少并发症,红霉素或阿奇霉素是治疗衣原体肺炎有效的首选抗生素。