Results 51 to 60 of about 6,050 (216)
55-year-old Woman with Headache, Vomiting, and Visual Disturbance [PDF]
, 2020 Case Presentation: A 55-year-old woman with a past medical history of hypertension, hyperlipidemia, and iron deficiency anemia presented to the emergency department with three days of headache, nausea, vomiting, and visual changes.
Murano, Tiffany +2 more
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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The Journal of Dermatology, Volume 52, Issue 2, Page 204-220, February 2025.Abstract Itch, also known as pruritus, is one of the most prevalent symptoms observed in dermatological practices. Itch frequently arises from primary pruritic dermatoses, although it may also manifest in the absence of a primary pruritic skin rash. The latter itchy condition is referred to as “cutaneous pruritus” in the Japanese guidelines published ...
Takashi Hashimoto, Satoshi Okuno
wiley +1 more source
NGF – the TrkA to successful pain treatment [PDF]
, 2012 Chronic pain arising from various pathological conditions such as osteoarthritis, low back or spinal injuries, cancer, and urological chronic pelvic pain syndromes presents significant challenges in diagnosis and treatment.
Kumar, Vinayak, Mahal, Brandon
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Congenital insensitivity to pain and anhidrosis
Indian Journal of Orthopaedics, 2011 Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase - a nerve growth factor
Ashok H Sasnur +2 more
openaire +4 more sources
William John Adie: the man behind the syndrome [PDF]
, 2014 William John Adie was an Australian neurologist in the early 20th century responsible for extensively describing the tonically dilated pupil associated with absent deep tendon reflexes – both features of a syndrome that now bears his name. In addition to
Clarke, Jonathan C +2 more
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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
JIMD Reports, Volume 66, Issue 1, January 2025.Abstract Fabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease.
Alison C. Leslie +6 more
wiley +1 more source
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
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Arthritis &Rheumatology, Volume 77, Issue 4, Page 383-389, April 2025.
Ghaith Noaiseh +16 more
wiley +1 more source
Bernard-Horner Syndrome after accidental lesion of carotid artery: case report [PDF]
, 2012 Among the complications of internal jugular vein insertion there is the lesion of the cervical sympathetic trunk with the onset of Bernard-Horner syndrome, consisting of miosis, eyelid ptosis, enophthalmos and anhidrosis on the same side of the lesion ...
CILLINO, Giovanni +4 more
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