Results 61 to 70 of about 20,881 (221)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Genetic Polymorphisms of Superoxide Dismutase Locus of Pneumocystis jirovecii in Spanish Population

Frontiers in Public Health, 2019
Objective:Pneumocystis pneumonia remains a major opportunistic infection in immunocompromised patients worldwide. Colonization with Pneumocystis jirovecii has recently gained attention as an important issue for understanding the complete cycle of human ...
Rubén Morilla, Rubén Morilla, Rubén Morilla, Amaia González-Magaña, Amaia González-Magaña, Vicente Friaza, Yaxsier de Armas, Francisco J. Medrano, Francisco J. Medrano, Enrique J. Calderón, Enrique J. Calderón, Carmen de la Horra, Carmen de la Horra   +12 more
doaj   +1 more source

Increased mortality in hematological malignancy patients with acute respiratory failure from undetermined etiology : a Groupe de Recherche en Réanimation Respiratoire en Onco-Hématologique (Grrr-OH) study [PDF]

, 2016
Background: Acute respiratory failure (ARF) is the most frequent complication in patients with hematological malignancies and is associated with high morbidity and mortality.
Azoulay, Elie, Benoit, Dominique, Bruneel, Fabrice, Contejean, Adrien, Darmon, Michael, Hamidfar, Rebecca, Jourdain, Mercé, Kouatchet, Achille, Lemiale, Virginie, Mayaux, Julien, Meert, Anne-Pascale, Mokart, Djamel, Nyunga, Martine, Perez, Pierre, Pène, Frédéric, Rabbat, Antoine, Renault, Anne, Resche-Rigon, Matthieu, Schlemmer, Benoît, Vincent, François   +19 more
core   +2 more sources

A case of acanthosis nigricans in a HIV-infected patient [PDF]

, 2020
Background: To date, very little information is available concerning the relationship between acanthosis nigricans (AN) and infection with human immunodeficiency virus type 1 (HIV-1).
De Vincentiis, Ludovica, Di Paolo, Marcello, Iacovelli, Alessandra, Mezzaroma, Ivano, Palange, Paolo, Soda, Giuseppe   +5 more
core   +1 more source

Therapy With Doxycycline and Hydroxychloroquine Enables Surgical Excision of Ulcerated Cutaneous Granulomas in a Patient With Ataxia Telangiectasia

Pediatric Dermatology, EarlyView.
ABSTRACT The rubella virus vaccine strain can cause granulomas in patients with inborn errors of immunity that may evolve into chronic, recalcitrant ulcers. This report details treatment of ulcerated rubella granulomas in a patient with ataxia telangiectasia with doxycycline and hydroxychloroquine resulting in partial ulcer healing within 4 weeks ...
Luis Murguía‐Favela, Sofia Maruschak‐Love, Robertson A. Harrop, Marie‐Anne Brundler, Kyle Kurek, Kevin Fonseca, Michele L. Ramien   +6 more
wiley   +1 more source

An evolutionary perspective on zinc uptake by human fungal pathogens [PDF]

, 2015
DW is supported by a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (Grant Number 102549/Z/13/Z).Peer reviewedPublisher ...
Wilson, Duncan
core   +1 more source

Pneumocystis jiroveciiand cystic fibrosis [PDF]

Medical Mycology, 2010
Pneumocystis jirovecii is an atypical opportunistic fungus with lung tropism and worldwide distribution that causes pneumonia in immunosuppressed individuals. The development of sensitive molecular techniques has led to the recognition of a colonization or carrier state of P. jirovecii, in which low levels of the organism are detected in persons who do
Enrique J, Calderón, Vicente, Friaza, Francisco J, Dapena, Carmen, de La Horra   +3 more
openaire   +2 more sources

An Update on Invasive Fungal Infections in Solid Organ Transplant Recipients

Transplant Infectious Disease, EarlyView.
ABSTRACT Invasive fungal infections (IFI) remain a significant infection‐related complication in solid organ transplant recipients (SOTRs), the incidence of which has not changed overtime. With a focus on studies and data published after 2019, this narrative review provides an update on the epidemiology and prevention of IFIs in SOTRs and highlights ...
Tina Marinelli, Shahid Husain
wiley   +1 more source

Newly formed cystic lesions for the development of pneumomediastinum in Pneumocystis jirovecii pneumonia

BMC Infectious Diseases, 2009
Background Pneumocystis jirovecii, formerly named Pneumocystis carinii, is one of the most common opportunistic infections in human immunodeficiency virus (HIV)-infected patients.
Yoon Sung, Kwon Yong, Kim Dong-Min, Cho Ju-Yeon, Lee Seung   +4 more
doaj   +1 more source

P neumocystis jirovecii pneumonia is rare in renal transplant recipients receiving only one month of prophylaxis [PDF]

, 2011
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/89470/1/tid692 ...
Arend, Batiuk, Calderón, Clark, de Boer, EBPG Expert Group on Renal Transplantation, Fishman, Fox, Gianella, Gordon, Hibberd, Kotton, Martin, Neff, Oz, Peleg, Ponce, Rabodonirina, Radisic, Schmoldt, Sollinger, Yazaki   +21 more
core   +1 more source