Effects of Obstructive Sleep Apnea and CPAP on Cognitive Function.

PURPOSE OF REVIEW: Obstructive sleep apnea (OSA) is characterized by repetitive episodes of complete or partial upper airway obstruction during sleep. Studies indicate that OSA is an independent risk factor for cognitive decline in older patients. The purpose of this paper is to critically review the recent literature on the cognitive effects of untreated OSA and the benefits of treatment across cognitive domains. RECENT FINDINGS: OSA's greatest impact appears to be on attention, vigilance, and information processing speed. Furthermore, the presence of OSA seems to have a significant impact on development and progression of mild cognitive impairment (MCI). Impact of OSA treatment, particularly with CPAP, appears to mitigate and slow the rate of cognitive decline and may reduce the risk of dementia. Larger properly controlled studies, of a prospective nature, are required to further elucidate the degree of treatment effect. More studies are needed on other treatments for OSA such as oral mandibular devices and hypoglossal nerve stimulation.

Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene.

BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before identified heterozygous mutation in the folliculin (FLCN) gene which is the likely cause of her syndrome. CASE PRESENTATION: A 34-year-old female was found to have bilateral renal masses, 2.4 cm on the right and 7.6 cm on the left, as well as multiple, small cysts in the lungs. Chest imaging further characterized the lung cysts as being basilar predominant with the largest measuring 1.6cm. The left kidney mass was resected with a partial nephrectomy with final pathologic diagnosis of an oncocytoma. Genetic testing was undertaken as she did not have characteristic skin findings. A previously undescribed mutation in the FLCN gene (c.780-2A>G) was identified with no matches in the human genetic mutation database (HGMD). Review of that database identified over 160 separate mutations in the FLCN gene. Extensive history did not identify any family members who had similar disease processes suggesting that this could be a spontaneous mutation in the proband. CONCLUSIONS: This case highlights that the traditional view of Birt-Hogg-Dubé syndrome as having a strong familial component may be incorrect and that spontaneous mutation may be more common than previously thought. Also notable is the fact that this patient had no characteristically described fibrofolliculomas that traditionally are the hallmark of the condition. This case suggests that genetic testing should be obtained in all suspected cases of Birt-Hogg-Dubé syndrome as the patient may not present with the typical skin findings and may also present with no family history consistent with this disorder.

An elderly woman with a mediastinal granulosa cell tumour: a rare presentation.

Mediastinal lesions occur in a wide variety of clinical conditions. Metastatic granulosa cell tumour (GCT) in the mediastinum is a rare occurrence. We report a case of a woman who had a metastatic (GCT) in her mediastinum 40 years after treatment of the initial neoplasm. Surgical resection of the mediastinal mass revealed a low-grade epithelioid neoplasm with coffee bean-shaped nuclei and immunohistochemical stains that were consistent with metastatic GCT.

Overview and recommendations for medical screening and diagnostic evaluation for postdeployment lung disease in returning US warfighters.

OBJECTIVE: To review inhalational exposures and respiratory disease risks in US military personnel deployed to Iraq and Afghanistan and to develop consensus recommendations for medical screening and diagnostic referral. METHODS: A Working Group of physicians and exposure scientists from academia and from the Departments of Defense and Veterans Affairs was convened in February 2010. RESULTS: Despite uncertainty about the number of people affected and risk factors for adverse pulmonary outcomes in this occupational setting, the Working Group recommended: (1) standardized approaches to pre- and postdeployment medical surveillance; (2) criteria for medical referral and diagnosis; and (3) case definitions for major deployment-related lung diseases. CONCLUSIONS: There is a need for targeted, practical medical surveillance for lung diseases and for a standardized diagnostic approach for all symptomatic deployed personnel.

The obesity paradox.

The term "obesity paradox" refers to the observation that, although obesity is a major risk factor in the development of cardiovascular and peripheral vascular disease, when acute cardiovascular decompensation occurs, for example, in myocardial infarction or congestive heart failure, obese patients may have a survival benefit. In addition, it has been suggested that obese patients tend to fare better after certain surgical procedures, such as coronary artery bypass surgery. Moreover, it appears that obese men with chronic hypertensive heart disease live longer than men of normal weight. Mounting evidence shows that obesity alone may confer a survival benefit independent of age, medical care, or therapy. Perhaps the definition of obesity needs to be revisited, and it is also possible that all fat is not equal.