Results 71 to 80 of about 228,636 (318)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Allergic contact dermatitis in adults with and without atopic dermatitis: Evaluation of the Spanish Contact Dermatitis Registry (REIDAC)

Background: Atopic dermatitis (AD) and allergic contact dermatitis (ACD) are inflammatory skin conditions whose association is not clearly defined.
Chicharro, P., Munera-Campos, M., Cordoba-Guijarro, S., Serra-Baldrich, E., Gonzalez-Perez, R., Gallego-Descalzo, M. A., Fernandez-Redondo, V., Gimenez-Arnau, A., Carrascosa, J. M., Silvestre-Salvador, J. F., Pastor-Nieto, M. A., Miquel-Miquel, F. J., Heras-Mendaza, F., Borrego Hernando, Leopoldo, Zaragoza-Ninet, V., Hervella-Garcia, M., Garcia-Doval, I., Rodriguez-Serna, M., Sanchez-Perez, J., Ruiz-Gonzalez, I., Sanz-Sanchez, T., de Frutos, F. J. Ortiz, Mercader-Garcia, P.   +22 more
core   +1 more source

Patch test results in 542 patients with suspected contact dermatitis in Turkey.

, 2002
In this retrospective study, patch test results of 542 patients (303 female and 239 male), referred to our clinic between June 1996 and July 1999, were evaluated.
Ozkaya-Bayazit, Esen, Akasya-Hillenbrand, E   +1 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Microscopic Study of Skin Diseases in Horses from the Bogota Savanna, Colombia

Revista de Medicina Veterinaria, 2014
Horses hold third place in number of cases of skin disease after cats and dogs; however, there is little information about the demographic aspects of dermatological diseases in this species in Colombia.
Iovana Castellanos Londoño, Germán Prada San Miguel, Germán Rodríguez Martínez, Rosario Santos Arias   +3 more
doaj   +1 more source

Cobalt release from implants and consumer items and characteristics of cobalt sensitized patients with dermatitis

, 2011
Background. Cobalt allergy is prevalent in dermatitis patients. Very little documentation exists about current sources of cobalt exposure.Objectives. To investigate and discuss putative sources of cobalt exposure and to present selected epidemiological ...
Johansen, JD, Stig S. Jakobsen, Kjeld Søballe, Torkil Menné, Gotfredsen, Klaus, Liden, C, Menne, T, Gotfredsen, K, Thyssen, Jacob Pontoppidan, Julander, Anneli, Klaus Gotfredsen, Jellesen, Morten Stendahl, Soballe, K, Thyssen, JP, Carola Lidén, Peter Jensen, Liden, Carola, Jellesen, MS, Carola, Liden, Johansen, Jeanne D., Jacob P. Thyssen, Julander, A,, Menne, Torkil, Morten S. Jellesen, Jensen, Peter, Jakobsen, SS, Anneli Julander, Jensen, P, Søballe, Kjeld, Johansen, Jeanne Duus, Jeanne D. Johansen, Jakobsen, Stig Storgaard   +31 more
core   +1 more source

Dosing Interval Extension of Dupilumab in CRSwNP: Five‐Year Real World Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent, often Type 2‐mediated inflammatory disease that markedly impairs quality of life. While dupilumab provides rapid improvement, there is limited evidence on long‐term outcomes beyond 2 years, and the clinical impact of dosing‐interval extension remains unclear.
Nicholas J. Campion, Dioni‐Pinelopi Petsiou, Florian C. Fally, Karina Berbalk, Noah F. Melamed, Aldine Tu, Christina Morgenstern, Fana Alem Kidane, Mohammed Zghaebi, Linda Liu, Minghao Pan, Tina J. Bartosik, Victoria Stanek, Katarina Gangl, Julia Eckl‐Dorna, Sven Schneider   +15 more
wiley   +1 more source

Occupational Allergies: A Brief Review [PDF]

European Medical Journal, 2016
Occupational allergies are groups of work-related disorders that are accompanied by immunologic reaction to workplace allergens and include occupational asthma, rhinitis, hypersensitivity pneumonitis, dermatitis, and anaphylaxis.
Mohammad Reza Masjedi, Kayvan Saeedfar, Javid Masjedi   +2 more
doaj  

Risk factors for work-related eczema and urticaria among vocational students of agriculture

Annals of Agricultural and Environmental Medicine, 2017
Introduction and objective Farmers are at high risk of occupational skin diseases which may start already during vocational training. This study was aimed at identification of risk factors for work-related skin diseases among vocational students of ...
Radosław Śpiewak, Anna Góra-Florek, Andrzej Horoch, Mirosław J. Jarosz, Agnieszka Doryńska, Marcin Golec, Jacek Dutkiewicz   +6 more
doaj   +1 more source