Congenital lung lesions—underlying molecular mechanisms

Correia‐Pinto, Jorge; Gonzaga, Sílvia; Huang, Yunbo; Rottier, Robbert J.

doi:10.1053/j.sempedsurg.2010.03.003

Cited by 106 publications

(71 citation statements)

References 61 publications

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“…Congenital cystic adenomatoid malformation (CCAM) type II of the lung has been reported in two individuals with large, BP1/2-BP4 deletions (subject 32 here and patient 17 in Brunetti-Pierri et al 4 ). As CCAM is likely because of the focal arrest in lung maturation during the fetal period, 38 candidate genes for this malformation include genes with roles in developmental pathways, including PIAS3 and RBM8A, which regulate STAT3, 39,40 involved in lung branching morphogenesis; 41 BCL9, which is involved in the b-catenin/WNT pathway, 42 also active in the lung development; 43 and PEX11B, which encodes a peroxisome biogenesis factor hypothesized to be important in developing airways and during alveolarization. 44 There have been multiple reports of polydactyly associated with the distal, BP3-BP4 microdeletion (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

et al. 2012

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Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. Therefore, to elucidate the clinical significance of rearrangements of the proximal 1q21.1 region, we evaluated the phenotypes in patients identified with 1q21.1 rearrangements after referral for clinical microarray testing. We report clinical information for 55 probands with copy number variations (CNVs) involving proximal 1q21.1: 22 microdeletions and 20 reciprocal microduplications limited to proximal 1q21.1 and 13 microdeletions that include both the proximal and distal regions. Six individuals with proximal microdeletions have TAR syndrome. Three individuals with proximal microdeletions and two individuals with larger microdeletions of proximal and distal 1q21.1 have a 'partial' TAR phenotype. Furthermore, one subject with TAR syndrome has a smaller, atypical deletion, narrowing the critical deletion region for the syndrome. Otherwise, phenotypic features varied among individuals with these microdeletions and microduplications. The recurrent, proximal 1q21.1 microduplications are enriched in our population undergoing genetic testing compared with control populations. Therefore, CNVs in proximal 1q21.1 can be a contributing factor for the development of abnormal phenotypes in some carriers

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Section: Discussionmentioning

confidence: 99%

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

et al. 2012

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“…[2,[7][8][9] The incidence rate of coexisting CLE and cardiovascular anomalies is 14%. [10] Anomalies such as renal agenesis, renal cyst, pectus excavatum, and diaphragmatic hernia as well as gastrointestinal and extremity anomalies may also coexist. [11,12] However, these congenital anomalies did not appear in our nine cases.…”

Section: Discussionmentioning

confidence: 99%

Surgical treatment of congenital lobar emphysema: A report of nine patients

Aydın¹

2012

Turk Gogus Kalp Dama

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Amaç: Bu çalışmada konjenital lober amfizem (KLA)'li dokuz çocuğa uygulanan cerrahi tedavinin sonuçları sunuldu. Ça lış ma pla nı: Mart 1996 -Şubat 2011 tarihleri arasında kliniğimizde KLA tanısı konulan ve pulmoner rezeksiyon uygulanan dokuz çocuk hasta (5 erkek, 4 kız; ort. yaş 19.9 ay; dağılım 40 gün-6 yıl) geriye dönük olarak incelendi. Hastaların semptomları, amfizemli lobun yerleşim yeri, tanısı, tedavi şekli, morbidite ve mortalite oranları ve hastane yatış süreleri gözden geçirildi. Bul gu lar: Dispne hastaların tümünde vardı, fakat hastalık dördünde ciddi idi. Amfizem üç hastada sağ orta lobda, üç hastada sol üst lobda, bir hastada sağ üst lobda ve bir hastada sol alt lobda tespit edildi. Dokuzuncu ve son hastada ise sağ üst ve orta lob birlikte tutulmuş idi. Konjenital amfizemden etkilenen loblar tüm hastalarda rezeke edildi. Ameliyat sonrası morbidite ve mortalite hiç kimsede gözlenmedi ve ameliyat sonrası ortalama hastane yatış süresi 5.8 (dağılım 3-7 gün) gün idi. So nuç: Konjenital lober amfizemli çocuklarda pulmoner rezeksiyon düşük morbidite ve mortalite oranları ile hızlı, güvenli ve hastalığı tamamen ortadan kaldıran bir tedavi yöntemidir.Anah tar söz cük ler: Çocuk; konjenital lober amfizem; pulmoner rezeksiyon.

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“…KLA %14 oranında kardiyovasküler anormalliklerle beraber bulunabilir. Beraber göründüğü diğer anormallikler; renal agenezi, renal kist, pektus ekscavatum ve diyafragma hernisi sayılabilir (11). Bizim olgumuzda bu konjenital anomalilerin hiçbiri yoktu.…”

Section: Olguunclassified

Congenital Lobar Emphysema

Mutlu¹,

Guven²

2018

Respir Case Rep

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ÖzetBir ya da birden fazla akciğer lobunun dışarıdan bir bası olmadan hiperinflasyonu konjenital lober amfizem olarak tanımlanır. 20.000 ila 30.000 doğumda bir izlenen çok nadir bir durumdur. Olguların %50'sinde etyoloji bilinmemektedir. Etyolojide suçlanan diğer nedenler, bronşiyal anormallikler ya da alveolar defektlerdir. Yetersiz kıkırdak desteğinin sonucunda bronşial kollapsın olduğu yönünde teoriler de vardır. Sıklıkla sol üst lob, ardından orta ve sağ üst loblar etkilenir, alt loblar ise nadiren etkilenir. Olguların %90'ı bebeklik döneminde ağır solunumsal semptomlarla tanı alır. Bu olgu sunumunda, erişkin yaşta tanı konan konjenital lober amfizem olgusundan bahsedilecektir.Anahtar Sözcükler: Konjenital, amfizem, hiperinflasyon. AbstractCongenital lobar emphysema is defined by hyperinflation of 1 or more lung lobes in the absence of extrinsic bronchial obstruction. It is a very rare condition with an incidence of 1 in 20,000 to 30,000 births. The etiology is unknown in 50% of cases. Other factors suspected in the etiology are bronchial abnormalities or alveolar defects. Some theories also include bronchial collapse as a result of insufficient cartilage support. The left upper lobe is frequently affected, followed by the middle and right upper lobes, while the lower lobes are rarely affected. Some 90% of cases are diagnosed in infancy with severe respiratory symptoms. In this report, a case of congenital lobar emphysema diagnosed in adulthood is described.

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Congenital lung lesions—underlying molecular mechanisms

Cited by 106 publications

References 61 publications

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Surgical treatment of congenital lobar emphysema: A report of nine patients

Congenital Lobar Emphysema

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