The Genetics of Pneumothorax.

A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: 1) pneumothorax can cluster in families (i.e., familial spontaneous pneumothorax), 2) mutations in the FLCN gene have been found in both familial and sporadic cases, and 3) pneumothorax is a known complication of several genetic syndromes. Herein, we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dubé syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others. At times, pneumothorax is their herald manifestation. These syndromes have serious potential extrapulmonary complications (e.g., malignant renal tumors in Birt-Hogg-Dubé syndrome), and surveillance and/or treatment is available for most disorders; thus, establishing a diagnosis is critical. To facilitate this, we provide an algorithm to guide the clinician in discerning which cases of spontaneous pneumothorax may have a genetic or familial contribution, which cases warrant genetic testing, and which cases should prompt an evaluation by a geneticist.

Familial pneumothorax: towards precision medicine.

One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax frequently precedes the more dangerous complications by many years, it provides an opportunity to intervene in a focused manner, permitting the practice of precision medicine. In this review, we will discuss the clinical manifestations and underlying biology of the genetic causes of familial pneumothorax.

Biocultural interpretations of trauma in two prehistoric Pacific Island populations from Papua New Guinea and the Solomon Islands.

Two Pacific Island skeletal samples originating from the inland site of Nebira, Papua New Guinea (1230-1650) and a coastal site on the small island of Taumako, Solomon Islands (1530-1698) were examined for evidence of skeletal trauma using a biocultural approach. The types of trauma identified were cranial trauma, postcranial fractures, and piercing and sharp force trauma. Both samples exhibit trauma (Nebira, n = 9/28, 32.1%; Taumako, n = 17/133, 12.8%). Postcranial fractures are significantly higher in males from Nebira (Fisher Exact P value = 0.025). The prevalence of cranial trauma (n = 6/28, 21.4%) is significantly higher in Nebira individuals (Fisher Exact P value = 0.007). There is no conclusive evidence of piercing trauma at Nebira unlike Taumako, which has four individuals with evidence of piercing or sharp force trauma. Both samples show evidence of interpersonal violence and warfare. The results suggest the environment may have contributed to the pattern of trauma at these sites. These patterns are discussed within their cultural and environmental contexts.

Domestication and large animal interactions: Skeletal trauma in northern Vietnam during the hunter-gatherer Da But period.

The aim of this paper is to test the hypothesis that healed traumatic injuries in the pre-Neolithic assemblage of Con Co Ngua, northern Vietnam (c. 6800-6200 cal BP) are consistent with large wild animal interactions prior to their domestication. The core sample included 110 adult (aged ≥ 18 years) individuals, while comparisons are made with an additional six skeletal series from Neolithic through to Iron Age Vietnam, Thailand, and Mongolia. All post cranial skeletal elements were assessed for signs of healed trauma and identified cases were further x-rayed. Crude trauma prevalence (14/110, 12.7%) was not significantly different between males (8/52) and females (5/37) (χ2 = 0.061, p = 0.805). Nor were there significant differences in the prevalence of fractured limbs, although males displayed greater rates of lower limb bone trauma than females. Further, distinct from females, half the injured males suffered vertebral fractures, consistent with high-energy trauma. The first hypothesis is supported, while some support for the sexual divisions of labour was found. The prevalence and pattern of fractured limbs at CCN when compared with other Southeast and East Asian sites is most similar to the agropastoral site of Lamadong, China. The potential for skeletal trauma to assess animal trapping and herding practices prior to domestication in the past is discussed.