神经病、神经外科和精神病学杂志

严重脑损伤后17年的社会心理调整;由琥珀酸脱氢酶（SDHA）黄素蛋白（Fp）亚单位突变所致Leigh综合征;动脉瘤性蛛网膜下腔出血早期循环中的内皮细胞激活标记物水平：与脑缺血事件和预后的关系;CSF前列腺素E2水平与认知功能下降和阿尔茨海默病存活率的关系；变异型克罗伊茨费尔特-雅各布病患者的CSF磷酸-tau蛋白浓度升高：诊断和病理学意义。     

Pulmonary Lophomonas blattarum infection in patients with kidney allograft transplantation

The aim of the study was to analyse the clinical manifestation and management of pulmonary Lophomonas blattarum infection in four allograft transplantation recipients retrospectively. Four patients with pulmonary L. blattarum infection were diagnosed by using Fiberoptic bronchoscopy (FOB) and bronchoalveolar lavage (BAL) examination. Their clinical manifestation and management are summarized. Four cases of pulmonary L. blattarum were found during the period from the second month to the third month after transplantation. Concurring infection by other pathogens was found in three of them. Common initial symptoms included fever (>38 degrees C) without cough and breathlessness. Lower lobe shadowing could be found on chest X-ray. Body temperature decreased to the normal range in three patients and to 37.5 degrees C in the other one, after intravenous injection of metronidazole and tapering immunosuppressant. Radiological examination confirmed improved health condition of the patients afterwards. Two patients received repeated FOB and only dead L. blattarum was found. Pulmonary L. blattarum infection in allograft transplant recipients carry relatively obscure initial symptoms. Possible L. blattarum infection needs to be screened in post-transplantation pulmonary infection patients with similar symptoms, especially in those who respond poorly to anti-infection treatment. Microscopic examination of BAL fluid can help to identify pulmonary L. blattarum infection and metronidazole is an ideal treatment choice.     

The distally based sural fasciomusculocutaneous flap for foot reconstruction.

Finding appropriate soft-tissue to cover a wound located over the middle or distal portion of the foot can be challenging. A distally based sural fasciomusculocutaneous flap including the sural nerve and a midline cuff of the gastrocnemius muscle can be used for this purpose. This flap is designed on the proximal third of the posterior calf and is nourished in a retrograde manner by the lower peroneal septocutaneous perforators, through the vascular axis of the sural nerve to the musculocutaneous perforators of the gastrocnemius muscle. Between October of 2002 and January of 2004, this flap was applied in nine individuals, including four diabetic patients. The skin defects all resulted from trauma, osteomyelitis or chronic ulcer, and combined with bone or tendon exposure. One flap developed distal necrosis. The other flaps survived fully and provided good contour. In our series, diabetes mellitus seemed not to compromise the vascularity of the flap. The distally based sural fasciomusculocutaneous flap is very useful for lower limb reconstruction, particularly for the foot, because of its long vascular pedicle and the availability of the skin portion of the proximal calf based on direct branches between the musculocutaneous perforators and the neurovascular axis of the sural nerve. This is an important variant of the sural neurocutaneous flap and it appears to be a good alternative to free flaps for resurfacing the foot.     

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。     

试论"自甘风险"原则在审理医疗侵权纠纷案件中的应用

公正的、客观的、完善的法律制度,是调整医患法律关系,规范医疗行为,保障医患双方合法权益的客观需要。随着我国法制建设的迅速发展,目前,患者越来越需要懂得依法维护自己的生命健康权利;医生越来越需要懂得依法进行诊疗,依法履行义务,依法维护自己的切身权利和利益;社会越来越需要有公正健全的法律制度。我国卫生法学领域的“新生代”正是在这种情况下应运而生的。各地涌现出一批兼有医学和法学双学历、勤勉好学、勇于探索、热衷于卫生法学研究的年轻人,将来必有建树。本刊《医与法》栏目就是他们及时发表睿见的一个园地,欢迎来稿。     

Cortical plasticity: effect of high and low intensity conditioning electrical stimulations (100 Hz) on SEPs to painful finger stimulation.

OBJECTIVE: To study the effect of high-frequency (100 Hz) repetitive conditioning electrical stimulation (CES, 10 min) on human somatosensory evoked potentials (SEPs) to evaluate if short-term cortical plasticity could be induced. METHODS: Painful electrical stimulations were applied to thumb (D1) and little finger (D5) fingertips, respectively. The 124-channel EEG was recorded from 10 healthy male volunteers. Peak stages around 34, 45, 212, 331 ms were analyzed with focal maximum amplitude (FA) and area magnitude (AM) of scalp field potential, topography, and equivalent current dipole source localisation, comparing before and after two-level CES (high- vs. low-level) applied to the He-Gu acupoint. RESULTS: After a high-level CES, the positive FA and AM of the current efflux showed a significant increase at the early phase 34 ms, and significantly decreased at 45 ms in D1 SEPs. The negative FA and AM of the current influx were significantly increased at late phase 350 ms of the D5 SEPs. Only 36 ms, the z-axis position of dipole was significantly changed from (x: -15.9 mm, y: 29.6 mm, z: 43.9 mm) to (x: -12.9 mm, y: 29.4mm, z: 51.5mm) for the D5 SEPs. CONCLUSIONS: The high-level CES significantly attenuated the subsequent cortical activation (45 ms peak for D1 stimulation). Both low- and high-level CES significantly enhanced the late activities (226, 350 ms) in D5 stimulation. This may be explained by pain sensation change at the level of subcortical cingulate cortex induced by the site-dependent post-effect of CES. SIGNIFICANCE: This study showed cortical plasticity induced by conditioning somatosensory stimulation.     

A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an arginine residue (C90R). No RET gene mutation was detected in this patient.     

Severe community-acquired pneumonia due to Legionella pneumophila Serogroup 6.

Legionella pneumophila is a common cause of sporadic community-acquired pneumonia, but culture-proven legionellosis is rarely diagnosed. There is no laboratory test for Legionnaires' disease that can detect all patients with the disease. Culture is the standard diagnostic method and should be initiated as soon as possible in suspected cases. We describe a rare case of community-acquired pneumonia caused by L. pneumophila serogroup 6. A 77-year-old man was admitted to a tertiary care hospital because of high fever, productive cough, and progressive dyspnea. Chest radiography showed bilateral pneumonia, which led to respiratory failure necessitating mechanical ventilatory support. Despite antibiotic therapy, his condition continued to deteriorate and acute renal failure also developed. Urine was negative for L. pneumophila. Culture of the sputum yielded L. pneumophila serogroup 6, although there was no elevation of the serum antibody titer. Pneumonia resolved gradually and he was extubated after treatment with levofloxacin followed by erythromycin. L. pneumophila other than serogroup 1 should be included in the differential diagnosis of patients with suspected atypical community-acquired pneumonia.