数据之美——聚焦全球器官捐献发展趋势

器官移植术是20世纪出现的针对器官功能衰竭的最有效治疗方法，每年拯救全球超过12万例患者。但供器官短缺的现状，与器官移植技术和辅助药物的发展不匹配，制约了器官移植事业的发展。我国自2015年起已成为全球器官捐献和移植大国之一，2017年公民逝世后器官捐献数量超过5 000例，占全球捐献总量的15%以上。黄洁夫教授总结的器官捐献与移植"中国模式"得到了世界卫生组织、国际移植界的高度重视和充分肯定。本文通过整理全球及各国的器官捐献与移植数据，剖析全球现状与发展趋势，进一步探索我国公民器官捐献的影响因素并提出针对性的应对策略，以期实现我国器官捐献和移植的"自给自足"。     

Genetic Approaches to Hypothalamic-Pituitary-Adrenal Axis Regulation

The normal function of the hypothalamic-pituitary-adrenal (HPA) axis, and resultant glucocorticoid (GC) secretion, is essential for human health. Disruption of GC regulation is associated with pathologic, psychological, and physiological disease states such as depression, post-traumatic stress disorder, hypertension, diabetes, and osteopenia, among others. As such, understanding the mechanisms by which HPA output is tightly regulated in its responses to environmental stressors and circadian cues has been an active area of investigation for decades. Over the last 20 years, however, advances in gene targeting and genome modification in rodent models have allowed the detailed dissection of roles for key molecular mediators and brain regions responsible for this control in vivo to emerge. Here, we summarize work done to elucidate the function of critical neuropeptide systems, GC-signaling targets, and inflammation-associated pathways in HPA axis regulation and behavior, and highlight areas for future investigation.     

Neuropsychological Findings: Myoclonic Astatic Epilepsy (MAE) and Lennox-Gastaut Syndrome (LGS)

Summary:  Purpose: To identify a specific neuropsychological profile associated with myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).
Methods: Seven patients diagnosed with MAE and four patients diagnosed with LGS were selected from patients referred to our Child Neurology Unit. The patients were assessed both clinically (awake, sleep, Holter EEG, seizures frequency, and semiology) and neuropsychologically (IQ, language, attention, visuospatial and visuomotor abilities, and behavior). One representative case of each syndrome is presented here.
Results: The clinical picture of the MAE patient resembled that of an MAE condition associated with transitory epileptic encephalopathy. The neuropsychological findings suggest that electroclinical anomalies can temporarily affect cognitive and behavioral functioning. Early effective antiepileptic drug (AED) treatment was found to improve cognitive outcome. In contrast, LGS was associated with mental retardation, which persisted after seizure control.
Conclusions: At present, it remains difficult to delineate a precise neuropsychological profile associated with MAE and LGS. The cognitive outcome of MAE is variable and depends on the clinical pattern. With regard to LGS, the hypothesis of a genetic predisposition underlying both the epilepsy and the mental retardation is still valid. Alternatively, exposure to subclinical electrophysiological anomalies during a critical period of cerebral development may be responsible for the mental retardation. At the time the clinical manifestations appear, drug treatment, even if effective, would have only limited impact on cognitive outcome. However, early multidisciplinary intervention may help to improve behavior and communicative abilities, enhancing the quality of life of these children and their families.     

An overview of podiatric biomechanics theory and its relation to selected gait dysfunction

This paper introduces the ‘foot function’ approach used by podiatrists in the treatment of lower limb musculoskeletal dysfunction. The aim is to demonstrate how podiatric theory has evolved its own perspective of mechanisms relating to normal and abnormal locomotion. Three individual podiatric paradigms are discussed, and a further theory allowing a working simplification of theory is introduced. Finally, an example of gait abnormality is discussed in relation to podiatric and physiotherapy perspectives.An insight into podiatric theory should enable therapists working within this field to develop a more holistic and multidisciplinary approach. It is the view of the authors that a closer working relationship between physiotherapists and podiatrists with an interest in movement dysfunction provides a better quality service for appropriate patients.     

Do phonologic and rapid automatized naming deficits differentially affect dyslexic children with and without a history of language delay? A study of Italian dyslexic children.

OBJECTIVE: The study aims to verify whether phonologic and rapid automatized naming (RAN) deficits are present and associated in Italian dyslexic children and whether they differentially affect dyslexics with and without a history of previous language delay (LD). BACKGROUND: According to the phonologic core deficit hypothesis, dyslexia may stem from impairment of the representation and manipulation of phonemes and may be closely associated with oral language deficits. However, deficits in tasks not requiring fine-grained phonologic representations, such as RAN, have also been described in dyslexic children. METHODS: Thirty-seven children were selected on the basis of a reading deficit and were assigned to 2 groups according to whether or not they had a history of early LD as determined retrospectively by parental report. A battery of reading and writing, verbal working memory, metaphonologic, RAN, and visual search tests were administered. RESULTS: RAN deficits were shared by most dyslexics (with and without a history of LD), whereas phonologic deficits were mainly associated with a previous LD. This last condition did not result in a more profound impairment of reading and writing decoding skills. CONCLUSION: In a shallow orthography such as Italian, RAN, not phonologic deficits, may represent the main cognitive marker of developmental dyslexia.     

Placebo responses in the treatment of urge incontinence

The treatment options of patients with urge incontinence are behavioral therapy, drug therapy and surgery. The evaluation and reported efficacy of these treatments, with particular reference to the potential placebo response in treatment is discussed.