KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review [PDF]
LifePathogenic variants in the NEXMIF gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy.
Catalina Mihaela Anastasescu +6 more
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The Photo- and Phonosensitivity Avoidance Behavior Scales: Evaluating Clinical Utility in Pediatric Primary Chronic Headache [PDF]
ChildrenBackground/Objectives: Pediatric primary chronic headache disorders are often associated with sensitivities to light (photosensitivity) and sound (phonosensitivity) that may trigger or worsen headache pain.
Allison M. Smith +3 more
doaj +2 more sources
Formoterol dynamically alters endocannabinoid tone in the periaqueductal gray inducing headache [PDF]
The Journal of Headache and PainBackground Headache is a pain disorder present in populations world-wide with a higher incidence in females. Specifically, the incidences of medication overuse headache (MOH) have increased worldwide.
Ingrid L. Peterson +6 more
doaj +2 more sources
Case Reports in Dermatology, 2021 Lupus erythematosus (LE) is an autoimmune disorder commonly affecting the skin; cutaneous lesions may indicate systemic involvement, warranting further evaluation.
Shir Azrielant +6 more
doaj +1 more source
Incapacitating solar urticaria: successful treatment with omalizumab [PDF]
Anais Brasileiros de Dermatologia, 2019 : Solar urticaria is a rare form of physical urticaria mediated by immunoglobulin E. The lesions appear immediately after the sun exposure, interfering with the patient's normal daily life.
Katarina Kieselova +2 more
doaj +2 more sources
A Case Series of Amicrobial Pustulosis of Folds: An Eye-opener for the Diagnosis of Autoimmune Disorders [PDF]
Journal of Clinical and Diagnostic Research, 2023 Amicrobial Pustulosis of Folds (APF) is a rare, chronic, relapsing cutaneous disease seen exclusively in younger women with a history of autoimmune disease, most commonly Systemic Lupus Erythematosus (SLE), or who simply have circulating autoantibodies.
Rajkumar Kannan +3 more
doaj +1 more source
Risk factors associated with actinic prurigo: a case control study [PDF]
Anais Brasileiros de Dermatologia, 2017 : Background: Actinic prurigo (AP) is an idiopathic photodermatosis. Although its initial manifestations can appear in 6 to 8-year-old children, cases are diagnosed later, between the second and fourth decades of life, when the injuries are exacerbated.
Juan Carlos Cuevas-Gonzalez +3 more
doaj +1 more source
Sporadic Kindler Syndrome with a novel mutation [PDF]
Anais Brasileiros de Dermatologia, 2013 We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous ...
Hiram Larangeira de Almeida Jr +4 more
doaj +1 more source
Movement Disorders, 2022 Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy.
I. Cordts +29 more
semanticscholar +1 more source
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency
International Journal of Molecular Sciences, 2021 Selenium, a trace element fundamental to human health, is incorporated as the amino acid selenocysteine (Sec) into more than 25 proteins, referred to as selenoproteins.
E. Schoenmakers, K. Chatterjee
semanticscholar +1 more source