Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families. TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase (TERC), is required to maintain telomere integrity. Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT. A heterozygous mutation in TERC also was found in one family. Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations. Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF.genetics ͉ idiopathic pulmonary fibrosis ͉ telomeres ͉ aging

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Staphylococcal pyomyositis is a severe invasive soft tissue infection with high mortality rate that is increasingly being recognized even in temperate climates. In most cases predisposing factors are identified that include either source of skin penetration or/and impaired host immunocompetence. A case of primary, community-acquired pyomyositis of the left iliopsoas muscle in a 59-year-old immunocompetent woman, which was complicated with septic pulmonary emboli within 24h after hospital admission, is presented. The patient was subjected to abscess drainage under computed tomography guidance. Both pus aspiration and blood cultures revealed methicillin-susceptible Staphylococcus aureus. Given the absolute absence of predisposing factors and a remote history of staphylococcal osteomyelitis in the same anatomical region 53 years ago, reactivation of a staphylococcal soft tissue infection was postulated. Systematic review of the literature revealed a few interesting cases of reactivated staphylococcal infection after decades of latency, although the exact pathophysiological mechanisms still need to be elucidated.

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Differential diagnosis of skin lesions is broad. Cutaneous metastases should always be considered in the appropriate clinical and laboratory context to ensure accurate diagnosis. https://bit.ly/400Msre

designed the research, Kalliopi Tsakiri performed research, Jennifer T. Cronkhite performed the TRFs, Melissa Nolasco provided technical support and Chao Xing assisted with the linkage analysis. Ganesh Raghu, Jonathan C. Weissler, and Randall L. Rosenblatt contributed new reagents/analytic tools. Jerry W.Shay and Wright laboratory provided assistance with telomerase assays.