vascular defect
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2020 ◽  
Vol 25 (3) ◽  
pp. 15-17
Author(s):  
Lăcrămioara-Eliza Pop ◽  
Angela Butnariu

AbstractBackground: Infants with congenital heart defects (CHD) are at risk of death if not recognized and treated on time, desirable during intrauterine life or soon after birth. Case: A 6-week old infant presented for the evaluation of an innocent murmur, discovered immediately after birth and recorded by the neonatologist, family physician and pediatrician at follow-up visit. At physical examination, a grade 2/6 systolic murmur and tachycardia were observed. The electrocardiography revealed sinus tachycardia. Transthoracic echocardiography recorded multiple heart defects (three ventricular septal defects, an atrial septal defect, valvular regurgitations, impaired right heart function) and a vascular defect. Treatment consisted of surgical repair. Conclusions: The rarity of the case results from the atypical presentation of the cardiovascular defects only through an innocent heart murmur, therefore criteria requested by guidelines for evaluation through transthoracic echocardiography for the suspicion of a CHD, were not encountered and the diagnosis was delayed.


2020 ◽  
Vol 12 (1) ◽  
pp. 46-57
Author(s):  
Katherine Andrea Romero Espinoza ◽  
Juan Andrés Abril Rivera ◽  
Fátima Graciela Iñiguez Plasencia ◽  
Willian Nelson Figueroa Tejedor

The association between periodontal disease and erectile dysfunction has not been sufficiently studied. However, recent studies have reported a possible link based on mutually shared risks factors between both pathologies, but the association is fundamentally attributed to endothelial dysfunction, phenomenon that is related to both diseases. It has been suggested that chronic periodontal disease can induce systemic inflammatory response that results in deterioration of the physiological and biochemical conditions of the endothelium causing endothelial dysfunction. On the other hand, erectile dysfunction is a multifactorial disease, but the vasculogenic factor is considered as the most frequent one, attributed to a vascular defect (en-dothelial dysfunction). So, the strongest link is the vascular function alteration, which undoubtedly demonstrates demonstrates a solid argument of association between both diseases. The objective of this literature review is to report the possible mechanisms of association between periodontal disease and erectile dysfunction, focusing mainly on endothelial dysfunction as the main existing link. KEYWORDS: PERIODONTAL DISEASES; PERIODONTITIS; ERECTILE DYSFUNCTION; VASCULAR ENDO-THELIUM.


2019 ◽  
Author(s):  
Daniel Snellings ◽  
Carol Gallione ◽  
Dewi Clark ◽  
Nicholas Vozoris ◽  
Marie Faughnan ◽  
...  

AbstractHereditary Hemorrhagic Telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations including visceral arteriovenous malformations and mucosal telangiectasia. HHT is caused by loss-of-function mutations in one of 3 genes; ENG, ACVRL1 or SMAD4 and is inherited as an autosomal dominant condition. Intriguingly, the constitutional mutation causing HHT is present throughout the body, yet the multiple vascular malformations in HHT patients occur focally, rather than manifesting as a systemic vascular defect. This disconnect between genotype and phenotype suggests that a local event is necessary for the development of vascular malformations. We investigated the hypothesis that local somatic mutations seed the formation HHT-related telangiectasia in a genetic two-hit mechanism. We identified low-frequency somatic mutations in 9/19 telangiectasia using high depth next-generation sequencing. We established phase for 7 of 9 samples using long-read sequencing, which confirm that the germline and somatic mutations in all 7 samples exist in trans configuration; consistent with a genetic two-hit mechanism. These combined data suggest that biallelic loss of ENG or ACVRL1 may be a required event in the development of telangiectasia, and that rather than haploinsufficiency, vascular malformations in HHT are caused by a Knudsonian two-hit mechanism.


Diabetes ◽  
2019 ◽  
pp. db181178 ◽  
Author(s):  
Yufeng Yao ◽  
Yong Li ◽  
Qixue Song ◽  
Changqin Hu ◽  
Wen Xie ◽  
...  

2019 ◽  
Vol 8 (1) ◽  
pp. 9
Author(s):  
Kaushaki Shankar ◽  
Parveen Kumar ◽  
Ashish Jain ◽  
Abhishek Chopra

Gastroschisis is a rare anterior abdominal wall defect which develops secondary to an early embryonic vascular defect. We report here a rare site of gastroschisis involving the posterior aspect of lateral abdominal wall on the right side, born to a celiac mother. There is no reported literature on any association between gastroschisis and celiac disease. We propose here possible role of palmitic acid pathway in this index case.


2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Agata Arazińska ◽  
Michał Polguj ◽  
Konrad Szymczyk ◽  
Magdalena Kaczmarska ◽  
Łukasz Trębiński ◽  
...  

2017 ◽  
Vol 187 (3) ◽  
pp. 505-516 ◽  
Author(s):  
Simon Guiraud ◽  
Tiffany Migeon ◽  
Arnaud Ferry ◽  
Zhiyong Chen ◽  
Souhila Ouchelouche ◽  
...  

2016 ◽  
Vol Volume 9 ◽  
pp. 169-172
Author(s):  
John Giltner ◽  
Edward Thomas ◽  
William Rundell

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