Results 161 to 170 of about 28,424 (265)

Refractory Eczema as a Presenting Feature of Common Variable Immunodeficiency

JEADV Clinical Practice, EarlyView.
ABSTRACT Common variable immunodeficiency (CVID) is the most prevalent symptomatic inborn error of immunity (IEI) in adults. It presents with recurrent infections and non‐infectious complications, including autoimmunity, lymphoproliferation and dermatitis.
Mercedes Sanchez‐Diaz, Lars Matthies, Andrea Vanegas Ramirez   +2 more
wiley   +1 more source

Autoimmunity and inborn errors of immunity: a complex coexistence. [PDF]

Front Immunol
Elamine A, Benhsaien I, Ailal F, Hbibi M, Fahi M, Bousfiha AA, El Bakkouri J.   +6 more
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes. [PDF]

Front Neurol
Alvi JR, Wasim A, Ahdi SG, Sultan T, Zia-Ur-Rehman M, Al-Thihli K, Al Murshedi F, Al Futaisi A.   +7 more
europepmc   +1 more source

Paediatric Melanonychia: Diagnosis and Management

JEADV Clinical Practice, EarlyView.
ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang, Erika Koh, Je‐Ho Mun, Dong‐Youn Lee, Matilde Iorizzo, Adam I. Rubin   +5 more
wiley   +1 more source

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features. [PDF]

J Hum Immun
Baba H, Hosoya T, Yamaguchi T, Itakura T, Sasaki H, Umezawa N, Saito T, Kimura N, Koike R, Yoshida M, Shimizu M, Kanegane H, Yasuda S.   +12 more
europepmc   +1 more source

Magnetic resonance imaging‐based axial‐plane analysis of lower extremity torsion with dedicated 3D planning software is reliable and efficient

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose The reliability and efficiency of a dedicated 3D planning software were evaluated for magnetic resonance imaging (MRI)‐based measurement of femoral torsion, tibial torsion, knee version and whole‐lower extremity torsion compared with manual assessment.
Johanna Lippuner, Felix Hüttner, Felix Ferner, Dorothée Sinha, Veronika Weyer‐Elberich, Björn Vogt, Mauricio Kfuri, Mirco Herbort, Jörg Harrer   +8 more
wiley   +1 more source

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis. [PDF]

J Inherit Metab Dis
Di Meo I, Anikster Y, Tiranti V, Iuso A.
europepmc   +1 more source

The Musculoskeletal Consequences of Mouth Breathing in Adults: A Systematic Review

The Laryngoscope, EarlyView.
Chronic mouth breathing can have a negative impact on posture, cause temporomandibular joint dysfunction (TMD), reduced masticatory muscle activity and efficiency, and suprahyoid muscle overuse. Postural changes include a head forward posture and increased lumbar lordosis.
Raewyn G. Campbell, Joshua R. Zadro, Nicholas J. Campion, Cliffton L. Chan, Martin G. Mackey, Gabriel Osie, Lu Hui Png, Richard G. Douglas, Katlego Mosito, Erin K. Reilly, Cedric Thiel, Robert C. Kern, Timothy L. Smith, Evangelos Pappas   +13 more
wiley   +1 more source

Malignancies in patients with inborn errors of immunity: insights from 20-years of clinical experience in Qatar. [PDF]

Front Immunol
Khalil SM, Adeli M, Mohamed S, Thalappil S, Taha SA, Gamil A, Charif H, Ben-Omran T, Ehlayel MS, Al-Nesf MA.   +9 more
europepmc   +1 more source