Results 31 to 40 of about 17,483 (248)

Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias

open access: yeseLife, 2016
Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus   +8 more
doaj   +1 more source

Clinical Manifestation and Hematologic Interpretation of Pediatric Systematic Lupus Erythematosus at Initial Presentation: 2-Years Observation

open access: yesAlthea Medical Journal, 2021
Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by a spectrum of clinical manifestations, immunological abnormalities, and varied laboratories results.
Hasti Savira Yudiana   +2 more
doaj   +1 more source

A boy with bird-like facies and ataxia: Cockayne syndrome

open access: yesIndian Journal of Paediatric Dermatology, 2018
Introduction: Congenital photosensitive disorders are a group disorders presenting with photosensitivity, short stature (SS), systemic manifestations and susceptibility to malignancy.
Vishalakshi S Pandit
doaj   +1 more source

Smoking associates with distinct clinical phenotypes in patients with systemic lupus erythematosus: a nationwide Danish cross-sectional study

open access: yesLupus Science and Medicine, 2021
Objectives SLE displays large clinical heterogeneity that beyond genetic factors may be determined by environmental exposures. In this Danish nationwide study, we aimed to determine if clinical subsets of SLE were associated with smoking history.Methods ...
Søren Jacobsen   +11 more
doaj   +1 more source

Kindler′s syndrome: A tale of two siblings

open access: yesIndian Journal of Dermatology, 2016
Kindler′s syndrome (KS) is a rare inherited skin disease characterized by acral blistering, photosensitivity, progressive poikiloderma, and cutaneous atrophy along with different types of mucosal involvement. We hereby report KS in two siblings. The case
Navya Handa   +4 more
doaj   +1 more source

Congenital erythropoietic porphyria: Two case reports

open access: yesIndian Journal of Dermatology, 2011
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
doaj   +1 more source

Aplastic Anemia Complicating Systemic Lupus Erythematosus

open access: yesIndian Pediatrics Case Reports, 2021
Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a myriad of hematological manifestations. Pancytopenia occurs in 10%–50% of cases in these patients.
Anu Maheshwari   +3 more
doaj   +1 more source

UiO‐66 metal–organic frameworks in biomedicine: From structural tunability to bioimaging, photodiagnostics, and photodynamic cancer therapy

open access: yesFEBS Open Bio, EarlyView.
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová   +2 more
wiley   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

open access: yesArthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya   +4 more
wiley   +1 more source

Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female

open access: yesAllergy, Asthma & Clinical Immunology, 2006
Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimicking angioedema with hepatomegaly in a 4-year-old ...
Wang Helen C, Yousef Ejaz
doaj   +1 more source

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