Results 141 to 150 of about 58,075 (254)
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
[Antinuclear antibodies]. [PDF]
M, Nishikai, T, Abe
openaire +3 more sources
Mycoplasma pneumoniae‐Induced Rash and Mucositis: Clinicopathologic Characterization of 11 Cases
ABSTRACT Background Mycoplasma pneumoniae ‐induced rash and mucositis (MIRM) is a mucocutaneous eruption affecting children and young adults with respiratory tract or clinically occult infection by M. pneumoniae . Mucosal involvement is often robust and may raise concern for Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). Histopathologic
Margaret Lang Houser +5 more
wiley +1 more source
The X Factor in Immunity: Sex Differences Shaped by the X Chromosome
ABSTRACT There are sex differences with immune responses where females exhibit stronger immune responses compared to males. Both sex hormones and sex chromosome differences between males and females contribute to the observed sex differences with innate and adaptive immune cell composition and function.
Katherine B. Radovanovic +2 more
wiley +1 more source
Objective Severalstudies have highlighted the role of Type I interferons (IFN‐I) in activating inflammatory pathways in lupus. However, no previous research focused on investigating the role of IFN‐I gene expression in the ophthalmologic involvement of systemic lupus erythematosus (SLE).
Raphael Teixeira Costa +6 more
wiley +1 more source
Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau +3 more
wiley +1 more source
Diffuse petechiae and non‐palpable purpura (lower extremities below knee, admission photo). ABSTRACT Immune thrombocytopenia (ITP) is a rare but recognized hematologic complication of tuberculosis (TB), particularly miliary TB. We present a case of a 50‐year‐old female with severe thrombocytopenia and hemorrhagic manifestations secondary to miliary TB.
Hayatu Awel Abdela +3 more
wiley +1 more source
ABSTRACT A 14‐year‐old female with juvenile systemic lupus erythematosus (jSLE) presented with a life‐threatening and previously unreported triad: the simultaneous onset of acute pancreatitis, severe axonal polyneuropathy, and autoimmune Type 1 Diabetes (T1D).
Laiba Hashmi +11 more
wiley +1 more source
Unmasking the 'rods and rings' antinuclear antibody pattern: a sign of hepatitis C treatment and a risk factor for cerebrovascular disease. [PDF]
Lin KM, Yu KH, Hsiao CY, Su YJ, Chan TM.
europepmc +1 more source
Epstein–Barr Virus and Hepatitis E Virus in an Immunocompetent Adult: A Rare Case Report
ABSTRACT Epstein–Barr virus (EBV) and Hepatitis E virus (HEV) are two distinct viral pathogens known to affect the liver. While EBV commonly causes mild, self‐limited hepatitis, and HEV is the leading cause of acute viral hepatitis globally, co‐infection with both viruses is exceedingly rare.
Philippe Attieh +4 more
wiley +1 more source

