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2006 1
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2013 5
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51 results

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Page 1
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
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) mut …
A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lin …
Birt-Hogg-Dubé syndrome: diagnosis and management.
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Menko FH, et al. Lancet Oncol. 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. Lancet Oncol. 2009. PMID: 19959076 Review.
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin …
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spo …
Respiratory distress in the newborn.
Hermansen CL, Lorah KN. Hermansen CL, et al. Am Fam Physician. 2007 Oct 1;76(7):987-94. Am Fam Physician. 2007. PMID: 17956068 Free article. Review.
Other etiologies of respiratory distress include pneumonia, sepsis, pneumothorax, persistent pulmonary hypertension, and congenital malformations; treatment is disease specific. ...
Other etiologies of respiratory distress include pneumonia, sepsis, pneumothorax, persistent pulmonary hypertension, and congenital m …
Familial spontaneous pneumothorax.
Chiu HT, Garcia CK. Chiu HT, et al. Curr Opin Pulm Med. 2006 Jul;12(4):268-72. doi: 10.1097/01.mcp.0000230630.73139.f0. Curr Opin Pulm Med. 2006. PMID: 16825879 Review.
PURPOSE OF REVIEW: Over 10% of patients with primary spontaneous pneumothorax report a positive family history of the disease. ...Several individuals with a family history of spontaneous pneumothorax have a mutation in the folliculin gene …
PURPOSE OF REVIEW: Over 10% of patients with primary spontaneous pneumothorax report a positive family history of the d …
Familial pneumothorax: towards precision medicine.
Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Scott RM, et al. Thorax. 2018 Mar;73(3):270-276. doi: 10.1136/thoraxjnl-2017-211169. Epub 2017 Dec 28. Thorax. 2018. PMID: 29288214 Review.
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 can …
One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial …
Pleurisy.
Kass SM, Williams PM, Reamy BV. Kass SM, et al. Am Fam Physician. 2007 May 1;75(9):1357-64. Am Fam Physician. 2007. PMID: 17508531 Free article. Review.
Other clinically significant conditions that may cause pleuritic pain include pericarditis, pneumonia, myocardial infarction, and pneumothorax. Patients should be evaluated appropriately for these conditions before an alternative diagnosis is made. ...
Other clinically significant conditions that may cause pleuritic pain include pericarditis, pneumonia, myocardial infarction, and pneumot …
[Spontaneous pneumothorax: new concepts and current management].
Humair G, Daccord C, Lazor R. Humair G, et al. Rev Med Suisse. 2023 Nov 15;19(850):2146-2152. doi: 10.53738/REVMED.2023.19.850.2146. Rev Med Suisse. 2023. PMID: 37966145 Review. French.
Spontaneous pneumothorax is a classical medical condition encountered in emergency centers, and by primary care and respiratory physicians. ...In case of spontaneous pneumothorax, a targeted family history is essential because it can suggest the …
Spontaneous pneumothorax is a classical medical condition encountered in emergency centers, and by primary care and respirator …
Childhood pneumothorax in Birt-Hogg-Dube syndrome: A cohort study and review of the literature.
Geilswijk M, Bendstrup E, Madsen MG, Sommerlund M, Skytte AB. Geilswijk M, et al. Mol Genet Genomic Med. 2018 May;6(3):332-338. doi: 10.1002/mgg3.373. Epub 2018 Feb 13. Mol Genet Genomic Med. 2018. PMID: 29439288 Free PMC article. Review.
BACKGROUND: Birt-Hogg-Dube syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. ...METHODS: To explore to what extent B …
BACKGROUND: Birt-Hogg-Dube syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased r …
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
METHODS: A comprehensive review was conducted to identify studies that had recruited families carrying pathogenic or likely pathogenic variants in FLCN. ...Segregation analysis was used to estimate the cumulative risk of each manifestation for carriers of FLCN pathogenic v …
METHODS: A comprehensive review was conducted to identify studies that had recruited families carrying pathogenic or likely pathogeni …
Management of perinatal lung malformations.
Macardle CA, Kunisaki SM. Macardle CA, et al. Minerva Ginecol. 2015 Feb;67(1):81-94. Epub 2014 Oct 13. Minerva Ginecol. 2015. PMID: 25310108 Review.
Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformation …
Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery …
51 results