Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation
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DOI: 10.1002/mgg3.1915
Abstract: Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic… read more here.
Keywords: pulmonary manifestations; disease; replacement therapy; enzyme replacement ... See more keywords
Pulmonary manifestations of immune dysregulation in CTLA‐4 haploinsufficiency and LRBA deficiency
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DOI: 10.1002/ppul.25373
Abstract: The primary immunodeficiency syndromes of cytotoxic T lymphocyte‐associated protein 4 (CTLA‐4) haploinsufficiency and lipopolysaccharide‐responsive and beige‐like anchor protein (LRBA) deficiency present with multisystem immune dysregulation. The aim of this study was to characterize and compare… read more here.
Keywords: ctla haploinsufficiency; pulmonary manifestations; immune dysregulation; lrba deficiency ... See more keywords
Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.
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DOI: 10.1016/j.pcl.2020.09.011
Abstract: Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of the pathologic basis of disease. Improvements in patient identification and treatment are impacting survival. This is true in endocrinology and inborn errors… read more here.
Keywords: methodology; pulmonary manifestations; endocrine metabolic; diseases children ... See more keywords
Pulmonary manifestations of systemic karyomegaly
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DOI: 10.1016/j.rmcr.2020.101032
Abstract: Over 40 years ago, abnormal enlargement of the nucleus of tubular epithelial cells was reported in a rare distinct hereditary chronic interstitial nephritis, karyomegalic interstitial nephritis (KIN). Here, we report the second case of systemic… read more here.
Keywords: medicine; pulmonary manifestations; systemic karyomegaly; karyomegaly pulmonary ... See more keywords
[Pulmonary manifestations induced by osimertinib].
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DOI: 10.1016/j.rmr.2021.12.002
Abstract: INTRODUCTION The third-generation tyrosine kinase inhibitor (TKI) osimertinib is recommended as a first-line treatment in advanced non-small cell lung cancer harboring an activating mutation of Epidermal Growth Factor Receptor (EGFR). Adverse pulmonary events related to… read more here.
Keywords: induced osimertinib; lung; pulmonary manifestations; manifestations induced ... See more keywords
The prevalence of non-vascular pulmonary manifestations in Takayasu's Arteritis patients: A Retrospective multi-centred Turkish cohort study.
Sign Up to like & getrecommendations! Published in 2021 at "Scandinavian journal of rheumatology"
DOI: 10.1080/03009742.2021.1972535
Abstract: Objectives Takayasu's arteritis (TAK) is a rare vasculitis characterized by inflammation of intermediate- to large-size arteries. Although pulmonary artery involvement (PAI) is an expected finding in some TAK patients, data on non-vascular pulmonary involvement (NVPI)… read more here.
Keywords: pulmonary manifestations; non vascular; vascular pulmonary; tak patients ... See more keywords
Pulmonary Manifestations of Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome: A Systematic Review
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DOI: 10.1155/2019/7863815
Abstract: Background The syndrome of drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, yet potentially fatal hypersensitivity reaction, most commonly associated with anticonvulsants, sulfonamides, and allopurinol. The reaction commonly manifests as a febrile… read more here.
Keywords: dress syndrome; pulmonary manifestations; reaction; involvement ... See more keywords
Pulmonary Manifestations of Primary Humoral Deficiencies
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DOI: 10.1155/2022/7140919
Abstract: Primary immunodeficiencies are a group of conditions characterized by developmental or functional alterations in the immune system caused by hereditary genetic defects. Primary immunodeficiencies may affect either the innate or the adaptive (humoral and cellular)… read more here.
Keywords: pulmonary manifestations; disease; primary humoral; humoral deficiencies ... See more keywords
Pulmonary Manifestations in Adolescents With Inflammatory Bowel Disease
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DOI: 10.1177/0009922820910821
Abstract: Objectives. The available literature on pulmonary disease in pediatric inflammatory bowel disease is limited. We evaluated the prevalence of pulmonary manifestations in pediatric inflammatory bowel disease and their association with disease severity. Methods. Patients completed… read more here.
Keywords: pulmonary manifestations; bowel disease; inflammatory bowel; disease ... See more keywords
Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.
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DOI: 10.15586/aei.v50i1.388
Abstract: BACKGROUND Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the… read more here.
Keywords: pulmonary manifestations; pattern patients; inborn errors; cohort patients ... See more keywords
Cutaneous and pulmonary manifestations of sarcoidosis triggered by coronavirus disease 2019 infection
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DOI: 10.1590/0037-8682-0647-2021
Abstract: Conflict of Interest: The authors declare that there is no conflict of interest. FIGURE 1 (A) Erythematous plaques on the face and chest. (B) Erythematous plaques with a symmetrical arrangement on the back. (C) Some… read more here.
Keywords: pulmonary manifestations; sarcoidosis triggered; red arrows; triggered coronavirus ... See more keywords