Results 141 to 150 of about 3,631,955 (312)

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Lifelong immunoglobulin replacement is not always necessary: A case description of a patient with recurrent infections and hypogammaglobulinemia

open access: yesInternational Journal of Immunopathology and Pharmacology, 2019
Humoral immunodeficiency with accompanying infections is an indication for human immunoglobulin replacement therapy. Whether treatment will be lifelong or necessary only temporarily depends on the nature of deficiency: primary (persistent) or secondary ...
Katarzyna Napiorkowska-Baran   +4 more
doaj   +1 more source

Minor mutations in HIV protease at baseline and appearance of primary mutation 90M in patients for whom their first protease-inhibitor ntiretroviral regimens failed [PDF]

open access: yes, 2004
The association between minor mutations in human immunodeficiency virus (HIV) protease at baseline and development of common primary mutation 90M at virological failure (conferring some resistance to all protease inhibitors [PIs]) was evaluated in 93
Antonella, D'Arminio Monforte   +11 more
core  

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Secondary Ureteral Perforation by Invasive Amebiasis in a Patient with Acquired Immunodeficiency Syndrome: A Case Report

open access: yesCase Reports in Nephrology, 2011
Ureteral perforation is a rare complication of abdominal infection, especially in a patient with human immunodeficiency virus (HIV) infection. We reported a case of ureteral perforation caused by a secondary amebiasis in a patient with acquired ...
Ming-Yin Yu   +6 more
doaj   +1 more source

Characterization of the longitudinal HIV-1 quasispecies evolution in HIV-1 infected individuals co-infected with Mycobacterium tuberculosis [PDF]

open access: yes, 2010
One of the earliest and most striking observations made about HIV is the extensive genetic variation that the virus has within individual hosts, particularly in the hypervariable regions of the env gene which is divided into 5 variable regions (V1-V5 ...
Leulebirhan, Tsigereda Biru
core  

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana   +5 more
wiley   +1 more source

Management of secondary immunodeficiency in hematological malignancies: a Delphi consensus from the Middle East

open access: yesFrontiers in Hematology
Secondary immunodeficiency (SID), acquired hypogammaglobinemia, is an immunodeficiency caused by different factors like diseases, medications, and/or nutrition disorders.
Maria Dimou   +21 more
doaj   +1 more source

Placental Malaria and Mother-to-Child Transmission of Human Immunodeficiency Virus-1 in Rural Rwanda [PDF]

open access: yes, 2011
We conducted a nested case-control study of placental malaria (PM) and mother-to-child transmission (MTCT) of human immunodeficiency virus-1 (HIV-1) within a prospective cohort of 627 mother-infant pairs followed from October 1989 until April 1994 in ...
Bulterys, Marc   +7 more
core  

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel   +13 more
wiley   +1 more source

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