Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach‐Wiethe disease and review of the literature

We describe the epilepsy features and emotion recognition abilities (recognition of basic facial emotions and recognition of emotional prosody) in a patient with Urbach‐Wiethe disease with bilateral amygdala calcifications. Our data, supported by ictal video‐EEG recording, indicated that our patient suffered from mesial temporal lobe epilepsy. Emotion recognition abilities were compared to those of healthy controls and those of patients with bilateral mesial temporal lobe epilepsy. Our patient showed a selective impairment of the recognition of facial expression of fear, whereas recognition of emotional prosody was preserved, in contrast to bilateral mesial temporal lobe epilepsy patients that presented with deficits in both domains. We also reviewed the literature on epilepsy in Urbach‐Wiethe disease (41 patients). Our findings suggest that in Urbach‐Wiethe disease, the circumscribed damage of both amygdalae results in a selective dysfunction of fearful face processing, in contrast to bilateral mesial temporal lobe epilepsy patients who present with a widespread and multimodal impairment in the judgement of emotional stimuli.     

肺泡蛋白沉着症肺泡灌洗术前后定量CT应用评价

目的 探讨定量CT在肺泡蛋白沉着症(PAP)支气管肺泡灌洗术中的应用价值.方法 定量CT通过分析PAP患者最大吸气末肺容积、肺重量、肺含气体积、平均肺密度及平均含气体积结果,对10例PAP患者共14次(两肺13次,单肺1次)肺泡灌洗术CT资料进行分析.并结合常规CT(病灶范围、密度)、肺功能(检查9次)及血气分析检查(检查14次)结果进行对比分析.结果 PAP经支气管肺泡灌洗术后,定量CT检查显示肺重量从(1594±436) g减低至(1294±374) g(P=0.000),平均肺密度从(0.5269±0.12) g/ml减低至(0.4389±0.09) g/ml(P=0.006),平均肺充气体积从(1.0989±0.5031) ml/g增加至(1.4700±0.4548) ml/g(P=0.008),肺含气体积有一定程度增加(P=0.116),肺容积在灌洗后略增加(P=0.938);肺泡灌洗前后的肺容积与肺含气体积呈显著相关(绝对系数R2=0.94,P=0.000).常规CT评价79%(11/14)CT检查结果改善.支气管肺泡灌洗术后有10次肺功能检查结果示DLCO%从45.85%±22.09%上升到54.64%±19.09%(P＝0.007)、DLCO/VA%从67.30%±22.62%上升到76.03%±18.60%(P＝0.03);FVC%、FEV1%、FEV1/FVC、PEF%也有不同程度改善,但无统计学差异(P＞0.05).14次血气分析显示从肺泡灌洗前的低氧血症[PaO2(8.07±2.1) kpa]到肺泡灌洗后的明显好转[PaO2(14.7±5.24) kpa](P=0.001).结论 定量CT可为PAP疗效评估提供客观依据,肺泡灌洗术后以定量CT结果中的肺重量、平均肺密度及平均含气肺体积改善明显.常规CT评价对PAP疗效观察具有一定价值.通过肺泡灌洗术,大部分患者病情短期内得到显著改善.     

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease)

Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified PAS-positive hyaline deposits, which were more intense in the papillary dermis. Scanning electron microscopy of the dermis showed a compact papillary dermis and fibrillar deposits in the middle dermis. Transmission electron microscopy clearly showed the deposition of fibrillar material in the dermis, forming clusters adherent to elastic fibers, between the collagen bundles and the collagen fibers, and also filling up the cytoplasm of dermal fibroblasts.     

Lipoid proteinosis: Urbach-Wiethe disease

Lipoid proteinosis (Urbach-Wicthe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the discase. A typical case is presented.     

Lipoid proteinosis: an unusual presentation with verruca vulgaris

Lipoid proteinosis (LP) is a very rare, autosomally recessive, inherited disease. It is also known as Urbach Wiethe disease or Hyalinosis cutis et mucosa. LP usually runs a benign, stable, and slowly progressing course. We present one LP case with additional unusual dermatologic involvement; verruca vulgaris was superimposed on papular lesions of LP. To our knowledge, this case is the first and only one described in the literature. In this presentation, we discuss the possibility of predisposition to Human Papilloma Virus (HPV) infections in LP.     

Pulmonary alveolar proteinosis treated with whole-lung lavage utilizing extracorporeal membrane oxygenation: a case report and review of literatures

Puhnonary alveolar proteinosis (PAP) was first described by Rosen et al^1 in 1958. PAP is characterized by the accumulation of proteinaceous material in the alveoli leading to varying degrees of impairment in gas exchange.     

The toxicology of gallium oxide in comparison with gallium arsenide and indium oxide

Gallium arsenide (GaAs) and indium oxide (In₂O₃) are used in electronic industries at high and increasing tonnages since decades. Gallium oxide (Ga₂O₃) is an emerging wide-bandgap transparent conductive oxide with as yet little industrial use. Since GaAs has received critical attention due to the arsenic ion, it seemed reasonable to compare its toxicology with the respective endpoints of Ga₂O₃ and In₂O₃ toxicology in order to find out if and to what extent arsenic contributes. In addition, the toxicology of Ga₂O₃ has not yet been adequately reviewed, Therefore, this review provides the first evaluation of all available toxicity data on Ga₂O₃. The acute toxicity of all three compounds is rather low. Subchronic inhalation studies in rats and mice revealed persistent pulmonary alveolar proteinosis (PAP) and/or alveolar histiocytic infiltrates down to the lowest tested concentration in rats and mice, i.e. 0.16 mg Ga₂O₃/m³. These are also the predominant effects after GaAs and In₂O₃ exposure at similarly low levels, i.e. 0.1 mg/m³ each.Subchronic Ga₂O₃ exposure caused a minimal microcytic anemia with erythrocytosis in rats (at 6.4 mg/m³ and greater) and mice (at 32 and 64 mg/m³), a decrease in epididymal sperm motility and concentration as well as testicular degeneration at 64 mg/m³. At comparable concentrations the hematological effects and male fertility of GaAs were much stronger.The stronger effects of GaAs are due to its better solubility and presumed higher bioavailability. The database for In₂O₃ is too small and subchronic testing was at very low levels to allow conclusive judgements if blood/blood forming or degrading and male fertility organs/tissues would also be targets.     

粒细胞巨噬细胞刺激因子联合全肺灌洗对特发性肺泡蛋白沉积症的疗效和安全性

目的 观察粒细胞巨噬细胞刺激因子（GM-CSF）联合全肺灌洗治疗特发性肺泡蛋白沉积症（IPAP）的疗效和安全性。方法 选取2015年8月至2017年3月在第二军医大学附属长海医院就诊的2例IPAP患者,经全肺灌洗后,分别予皮下注射和雾化吸入GM-CSF治疗,观察其疗效和安全性。结果 2例患者经GM-CSF联合全肺灌洗治疗,病情缓解。结论 GM-CSF联合全肺灌洗治疗对IPAP患者治疗有效、用药安全。     

肺泡蛋白沉着症影像学分析（附2例报告）

目的探讨肺泡蛋白沉着症(PAP)的影像特点及诊断。方法对2例经胸腔镜活检病理及肺泡灌洗证实的肺泡蛋白沉着症的胸片和CT表现进行分析。结果PAP胸部影像表现呈多样化，如地图样、碎石路样、肺实变、肺水肿样及肺间质纤维化样表现等。结论肺部影像表现可充分显示肺泡蛋白沉着症的特点，结合临床有助于确诊本病。