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https://www.readbyqxmd.com/read/27884767/eif2ak4-mutations-in-patients-diagnosed-with-pulmonary-arterial-hypertension
#1
D Hunter Best, Kelli L Sumner, Benjamin P Smith, Kristy Damjanovich-Colmenares, Ikue Nakayama, Lynette M Brown, Youna Ha, Eleri Paul, Ashley Morris, Mohamed A Jama, Mark W Dodson, Pinar Bayrak-Toydemir, C Gregory Elliott
BACKGROUND: Differentiating pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) from idiopathic or heritable pulmonary arterial hypertension (IPAH and HPAH) is important clinically. Mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) cause heritable PVOD and PCH whereas mutations in other genes cause HPAH. The aim of this study is to describe the frequency of pathogenic EIF2AK4 mutations in patients diagnosed clinically with IPAH or HPAH...
November 21, 2016: Chest
https://www.readbyqxmd.com/read/27872804/pulmonary-hypertension-secondary-to-pulmonary-veno-occlusive-disease-complicated-by-right-heart-failure-hypotension-and-acute-kidney-injury
#2
Nima Golzy, Stuti Fernandes, Justin Sharim, Rikin Tank, Henry D Tazelaar, Howard E Epstein, Victor Tapson, Antoine Hage
Pulmonary veno-occlusive disease (PVOD) is rare condition which can lead to severe pulmonary hypertension, right ventricular dysfunction, and cardiopulmonary failure. The diagnosis of PVOD can be challenging due to its nonspecific symptoms and its similarity to idiopathic pulmonary arterial hypertension and interstitial lung disease in terms of diagnostic findings. This case describes a 57 year old female patient who presented with a 5-month history of progressive dyspnea on exertion and nonproductive cough...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27684876/eif2ak4-mutation-in-pulmonary-veno-occlusive-disease-a-case-report-and-review-of-the-literature
#3
Li Liang, Guofeng Ma, Kai Chen, Yangxiang Liu, Xiaohong Wu, Kejing Ying, Ruifeng Zhang
BACKGROUND: Pulmonary veno-occlusive disease (PVOD) is a rare and devastating cause of pulmonary arterial hypertension with a non-specific clinical presentation and a relatively specific presentation in high-resolution thoracic CT scan images. Definitive diagnosis is made by histological examination in previous. According to the 2015 ESC/ERS Guidelines, detection of a mutation in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) without histological confirmation is recommended to validate the diagnosis of PVOD...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27672068/centrilobular-nodules-in-high-resolution-computed-tomography-of-the-lung-in-ipah-patients-preliminary-data-concerning-clinico-radiological-correlates
#4
Monika Szturmowicz, Aneta Kacprzak, Barbara Burakowska, Agnieszka Skoczylas, Iwona Bestry, Jan Kuś, Anna Fijałkowska, Adam Torbicki, Marcin Kurzyna
INTRODUCTION: Inhomogeneity of lung attenuation pattern is observed in high resolution chest computed tomography (HRCT) in some IPAH patients despite lack of interstitial lung disease. Such radiological changes are described either as ill-defined centrilobular nodules (CN) or as focal ground glass opacities (FGGO). There is no consensus in the literature, whether they indicate the distinct type of IPAH, or pulmonary venoocclusive disease (PVOD) with subtle radiological changes. Thus the aim of the present pilot study was to assess the frequency and clinical significance of inhomogenic lung attenuation pattern in IPAH...
2016: Pneumonologia i Alergologia Polska
https://www.readbyqxmd.com/read/27623416/small-sample-lung-biopsy-findings-in-patients-with-clinicoradiologic-suspicion-of-pulmonary-venoocclusive-disease-pulmonary-capillary-hemangiomatosis
#5
Shakti K Bal, Balamugesh Thangakunam, Aparna Irodi, Mayank Gupta, Devasahayam J Christopher
Pulmonary venoocclusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) form a sinister subgroup of pulmonary arterial hypertension where the predominant pathology lies in the pulmonary veins and capillaries, thus making the use of pulmonary vasodilators potentially dangerous in these patients. Radiologically, the presence of centrilobular nodules, interlobular septal thickening, and significant mediastinal adenopathy are useful in identifying this subgroup from patients with pulmonary arterial hypertension...
October 2016: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/27587546/genetic-analyses-in-a-cohort-of-children-with-pulmonary-hypertension
#6
Marilyne Levy, Mélanie Eyries, Isabelle Szezepanski, Magalie Ladouceur, Sophie Nadaud, Damien Bonnet, Florent Soubrier
The prevalence of germline mutations in paediatric pulmonary hypertension (PH) is poorly documented. The objective of this study was to determine the mutation frequency in PH genes in a paediatric cohort and describe the clinical characteristics of mutation carriers.The study involved 66 index cases with PH: 35 children with idiopathic pulmonary arterial hypertension (IPAH); five children with familial PAH (FPAH); three children with pulmonary veno-occlusive disease (PVOD); and 23 children with PAH associated with congenital heart disease (APAH-CHD)...
October 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27514598/pulmonary-capillary-hemangiomatosis-and-pulmonary-veno-occlusive-disease
#7
REVIEW
Neal F Chaisson, Mark W Dodson, Charles Gregory Elliott
This article provides an overview of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH), two disorders that challenge clinicians, radiologists, and pathologists because they often mimic pulmonary arterial hypertension (PAH). The article reviews the features that differentiate PVOD and PCH from PAH. The article also describes the overlap of PVOD and PCH, highlighted by recent reports of families diagnosed with PVOD or PCH caused by EIF2AK4 mutations. In addition, the article outlines current approaches to the diagnosis and treatment of PVOD and PCH...
September 2016: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/27428110/sendai-virus-induces-persistent-olfactory-dysfunction-in-a-murine-model-of-pvod-via-effects-on-apoptosis-cell-proliferation-and-response-to-odorants
#8
Jun Tian, Jayant M Pinto, Xiaolan Cui, Henghui Zhang, Li Li, Yulong Liu, Chan Wu, Yongxiang Wei
BACKGROUND: Viral infection is a common cause of olfactory dysfunction. The complexities of studying post-viral olfactory loss in humans have impaired further progress in understanding the underlying mechanism. Recently, evidence from clinical studies has implicated Parainfluenza virus 3 as a causal agent. An animal model of post viral olfactory disorders (PVOD) would allow better understanding of disease pathogenesis and represent a major advance in the field. OBJECTIVE: To develop a mouse model of PVOD by evaluating the effects of Sendai virus (SeV), the murine counterpart of Parainfluenza virus, on olfactory function and regenerative ability of the olfactory epithelium...
2016: PloS One
https://www.readbyqxmd.com/read/27118446/gender-difference-in-chinese-adults-with-post-viral-olfactory-disorder-a-hospital-based-study
#9
Jia Liu, Jayant M Pinto, Ling Yang, Li Li, Jingwu Sun, Xutao Miao, Kunyan Li, Guowei Chen, Yongxiang Wei
CONCLUSIONS: This hospital-based study found a gender differences in Chinese subjects with post-viral olfactory disorder (PVOD). Women appear to face higher susceptibility to PVOD, a finding that appears to be magnified with age and duration of olfactory loss. OBJECTIVES: PVOD is one of the most common reasons for acquired olfactory dysfunction, but there is little data in Chinese populations. We analyzed Chinese subjects with PVOD in order to determine demographic risk factors and clinical features in this major population group...
September 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27069695/reactive-pulmonary-capillary-hemangiomatosis-and-pulmonary-veno-occlusive-disease-in-a-patient-with-repaired-scimitar-syndrome
#10
Eva Güttinger, Bart Vrugt, Rudolf Speich, Silvia Ulrich, Fabienne Schwitz, Mattia Arrigo, Lars C Huber
Pulmonary capillary hemangiomatosis (PCH) is a rare histological substrate within the spectrum of pulmonary arterial hypertension that possibly represents an unusual manifestation of pulmonary veno-occlusive disease (PVOD). One of the histological hallmarks of PCH is the proliferation of pulmonary capillaries in the alveolar septa that infiltrate adjacent structures such as bronchioles, vessels, and visceral pleura. The hyperplastic process involving the smallest vessels of the pulmonary vascular bed might reflect uncontrolled angiogenesis, but whether this vascular proliferation is idiopathic or, conversely, a reactive process remains to be elucidated...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27055781/-drug-induced-pulmonary-hypertension-a-current-review
#11
S Günther, J Behr, H Knoop
BACKGROUND: The current classification of pulmonary Hypertension (PH) consists of five clinical groups, and drug-induced pulmonary arterial hypertension (PAH) is classified under Group 1 as a distinct entity. Our present work encompasses the available data concerning the association between the intake of a wide range of drugs and development of PAH. METHODS: A selective literature search was performed in Pubmed to include published work between the years 1960 - 2015...
May 2016: Pneumologie
https://www.readbyqxmd.com/read/27034689/recovery-of-olfactory-function-in-postviral-olfactory-dysfunction-patients-after-acupuncture-treatment
#12
Qi Dai, Zhihui Pang, Hongmeng Yu
Introduction. The aims of this study were to assess the impact of traditional Chinese acupuncture (TCA) in postviral olfactory dysfunction (PVOD) patients who were refractory to standardized treatment and to compare the results with the impact observed in an observation group. Methods. Fifty patients who presented to the outpatient clinic with PVOD and were refractory to standardized treatment were included: 25 were treated with TCA and 25 patients were simply observed. A subjective olfactory test was performed using the University of Pennsylvania Smell Identification Test (UPSIT)...
2016: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/27009171/pulmonary-veno-occlusive-disease
#13
REVIEW
David Montani, Edmund M Lau, Peter Dorfmüller, Barbara Girerd, Xavier Jaïs, Laurent Savale, Frederic Perros, Esther Nossent, Gilles Garcia, Florence Parent, Elie Fadel, Florent Soubrier, Olivier Sitbon, Gérald Simonneau, Marc Humbert
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterised by preferential remodelling of the pulmonary venules. In the current PH classification, PVOD and pulmonary capillary haemangiomatosis (PCH) are considered to be a common entity and represent varied expressions of the same disease. The recent discovery of biallelic mutations in the EIF2AK4 gene as the cause of heritable PVOD/PCH represents a major milestone in our understanding of the molecular pathogenesis of PVOD...
May 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/26987595/lung-capillary-blood-volume-and-membrane-diffusion-in-precapillary-pulmonary-hypertension
#14
Laurent Godinas, David Amar, David Montani, Edmund M Lau, Xavier Jaïs, Laurent Savale, Mitja Jevnikar, Olivier Sitbon, Gérald Simonneau, Marc Humbert, Pierantonio Laveneziana, Gilles Garcia
BACKGROUND: Combined diffusion capacity of the lung for carbon monoxide (DLco) and nitric oxide (DLno) measurements allow for the estimation of pulmonary capillary blood volume (Vc) and alveolar membrane diffusion (Dm). The clinical usefulness of these measurements in pulmonary hypertension (PH) is unclear. METHODS: Combined DLco and DLno were measured in 290 consecutive patients with precapillary PH (pulmonary arterial hypertension (PAH), n = 153; pulmonary veno-occlusive disease (PVOD), n = 33; and chronic thromboembolic pulmonary hypertension (CTEPH), n = 104)...
May 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/26926086/pulmonary-veno-occlusive-disease-a-newly-recognized-cause-of-severe-pulmonary-hypertension-in-dogs
#15
K Williams, K Andrie, A Cartoceti, S French, D Goldsmith, S Jennings, S L Priestnall, D Wilson, A Jutkowitz
Pulmonary hypertension is a well-known though poorly characterized disease in veterinary medicine. In humans, pulmonary veno-occlusive disease (PVOD) is a rare cause of severe pulmonary hypertension with a mean survival time of 2 years without lung transplantation. Eleven adult dogs (5 males, 6 females; median age 10.5 years, representing various breeds) were examined following the development of severe respiratory signs. Lungs of affected animals were evaluated morphologically and with immunohistochemistry for alpha smooth muscle actin, desmin, CD31, CD3, CD20, and CD204...
July 2016: Veterinary Pathology
https://www.readbyqxmd.com/read/26879592/pharmacologic-treatment-for-postviral-olfactory-dysfunction-a-systematic-review
#16
REVIEW
Lucas Harless, Jonathan Liang
BACKGROUND: Postviral olfactory dysfunction (PVOD) is the most common cause of olfactory dysfunction. Several treatments have been presented in the literature. The objective of this study is to systematically review the existing literature on the effectiveness of pharmacologic treatments for PVOD. METHODS: We performed a literature search of PubMed, Ovid, and ScienceDirect from 1966 to 2014. Inclusion criteria included English-language articles containing original data on pharmacologic treatment of PVOD with ≥5 subjects, measurable outcomes, and readily available treatments...
July 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/26792692/-clinicopathological-diagnosis-of-diffuse-alveolar-hemorrhage
#17
F Fang, Y M Li, S T Hu, H T Wang, D G Liu, C Wang
OBJECTIVE: To improve knowledge about the clinical and pathological features of diffuse alveolar hemorrhage (DAH). METHODS: Six cases DAH with intact clinical and pathological data were retrospectively analyzed during the period from May 1999 to May 2015 in Beijing Hospital. There were altogether 2 males and 4 females, with age ranging from 32 to 68 years (mean 58.8 years). Specimens were obtained by autopsy (3 cases), open lung biopsy (2 cases) and renal biopsy (2 cases), including 1 case of open lung biopsy in 2003, renal biopsy in 2012...
January 12, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/26699722/genetic-counselling-in-a-national-referral-centre-for-pulmonary-hypertension
#18
Barbara Girerd, David Montani, Xavier Jaïs, Mélanie Eyries, Azzedine Yaici, Benjamin Sztrymf, Laurent Savale, Florence Parent, Florence Coulet, Laurent Godinas, Edmund M Lau, Yuichi Tamura, Olivier Sitbon, Florent Soubrier, Gérald Simonneau, Marc Humbert
Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3)...
February 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/26541523/occupational-exposure-to-organic-solvents-a-risk-factor-for-pulmonary-veno-occlusive-disease
#19
David Montani, Edmund M Lau, Alexis Descatha, Xavier Jaïs, Laurent Savale, Pascal Andujar, Lynda Bensefa-Colas, Barbara Girerd, Inès Zendah, Jerome Le Pavec, Andrei Seferian, Frédéric Perros, Peter Dorfmüller, Elie Fadel, Florent Soubrier, Oliver Sitbon, Gérald Simonneau, Marc Humbert
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension characterised by predominant remodelling of pulmonary venules. Bi-allelic mutations in the eukaryotic translation initiation factor 2α kinase 4 (EIF2AK4) gene were recently described as the major cause of heritable PVOD, but risk factors associated with PVOD remain poorly understood. Occupational exposures have been proposed as a potential risk factor for PVOD, but epidemiological studies are lacking.A case-control study was conducted in consecutive PVOD (cases, n=33) and pulmonary arterial hypertension patients (controls, n=65)...
December 2015: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/26474632/-pulmonary-capillary-hemangiomatosis-a-case-report-and-literature-review
#20
REVIEW
Yan Xiong, Xiao-xia Li, Xiang-dong Mu, Dong Li, Ying Wang, Ting Li
We reported a case of pulmonary capillary hemangiomatosis (PCH) and introduced its diagnosis, differential diagnosis, pathogenesis and development of treatment based on the review of Dana Point 2008 Classification of Pulmonary Hypertensiona and current literatures. A 43-year-old female presented progressive dyspnea, elevated pulmonary arterial pressures and CT pulmonary angiography (CTPA) imaging of main pulmonary arterial enlargement and wide spread ill-defined centrilobular nodules of ground-glass opacity...
October 18, 2015: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
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