Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice.

Lung dysfunction is an important part of the pathology of the neurodegenerative disorder, Niemann-Pick C1 (NPC1). We have studied the pulmonary disease in the Npc1(NIH/NIH) mouse model. On histology, we find large numbers of alveolar foamy macrophages but no alveolar proteinosis. Lung weight as percent of body weight was markedly increased; using the flexiVent small animal ventilator (SCIREQ, Inc.), we find inspiratory capacity, elastance and hysterisivity to be increased while resistance was not changed. Cholesterol measurements show a doubling of lung cholesterol levels. Collagen is also increased. Treatment of Npc1(-/-) mice with hydroxypropyl-ß-cyclodextrin (HPBCD), despite efficacious effects in brain and liver, results in little difference from age-matched controls (using a CNS-expressed transgene to extend the life expectancy of the Npc1(-/-) mice) for these variables.

Recurrent Pneumothoraces in a Patient With Pulmonary Benign Metastasizing Leiomyoma.

BACKGROUND: Pulmonary benign metastasizing leiomyoma (BML) is a rare disease with a malignant characteristic of spread from the uterus. Most cases are asymptomatic, and only 1% are associated with pneumothorax. CASE REPORT: We present the case of a 42-year-old female with recurrent pneumothoraces leading to an incidental finding of diffuse bilateral pulmonary nodules. The diagnosis of BML was based on the patient's history of uterine leiomyomata and confirmed by a biopsy showing benign smooth muscle staining for desmin and vimentin. CONCLUSION: BML should be considered in women with a history of leiomyomata who develop pneumothoraces resulting from peripheral pulmonary nodules. A standardized treatment regimen has yet to be established, and therapy plans require a multidisciplinary approach, involving gynecology, cardiothoracic surgery, and pulmonology.

Trigeminal Trophic Syndrome Associated With the Use of Synthetic Marijuana.

BACKGROUND: Trigeminal trophic syndrome (TTS) is an uncommon disorder of the trigeminal nerve tract and trigeminal brainstem nucleus. The syndrome is characterized by a triad of unilateral crescentic ulcers with anesthesia and paresthesias of the involved trigeminal dermatomes. CASE REPORT: A 24-year-old right-handed black female presented to our emergency department with a 4-week history of rapidly progressive painless desquamation/denudation of skin over her right face and scalp. Four weeks prior, she had been admitted to another institution for seizures and was diagnosed with seizures provoked by synthetic marijuana use. She was afebrile during her initial presentation at our institution. Dermatologic examination revealed denudation of the epidermis and partial dermis over the right frontal, parietal, and temporal scalp with associated alopecia. CONCLUSION: To our knowledge, the association of disorders of the trigeminal nerve pathway, including TTS, with the use of synthetic marijuana has not been previously reported. The long-term neurologic effects of synthetic marijuana are difficult to predict, and the pathologic underpinnings of TTS are largely unknown. Further studies dedicated to exploring the underlying molecular and cellular mechanisms may translate into effective therapies and approaches to halt and reverse the process and prevent tissue destruction and cosmetic disfigurement.

Psychosocial Impact of Epilepsy in Older Adults.

OBJECTIVE: The purpose of our study was to describe the quality of life of older adults with seizures or epilepsy and compare its psychosocial impact between those who were new diagnosed and those diagnosed before the age of 65. METHODS: In-depth face to face interviews with open ended questions were conducted with two participant groups: Incident group: 42 older adults (>65 years) with new onset or newly diagnosed after age of 65; and Prevalent group: 15 older adults (>65 years) diagnosed before age of 65. Interviews were reviewed and coded using a list of themes and results were compared between the two groups. Eight topics were selected from the participants' responses to questions about the psychosocial impact of epilepsy and seizures. The topics were then analyzed and compared between the two groups. RESULTS: The topics analyzed were: Emotional and physical impact, significant life changes, co-morbidities, information gathering, stigma, AED side effects, changes in relationships and attitude toward diagnosis. CONCLUSION: We concluded that the age at onset and duration does seem to have a negative correlation with health related quality of life. However, the perceived health status of older adults with chronic epilepsy was significantly better and reflected in their more positive approach to the diagnosis of seizures or epilepsy probably because they have had a longer opportunity to learn to cope with their diagnosis.