Results 51 to 60 of about 6,021 (155)

Dysuria due to discospondylitis and intervertebral disc herniation in a male alpaca (Vicugna pacos) [PDF]

open access: yes, 2015
Background: Dysuria in camelids is usually associated with the presence of lower urinary tract disease such as urolithiasis. As another differential diagnosis, urine retention may be caused by neurological disturbances resulting from infections of the ...
Hirz, Manuela   +3 more
core   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón   +33 more
wiley   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

open access: yesPediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho   +7 more
wiley   +1 more source

Purinergic receptor mediated calcium signalling in urothelial cells [PDF]

open access: yes, 2019
Non-neuronal ATP released from the urothelium in response to bladder stretch is a key modulator of bladder mechanosensation. Whilst non-neuronal ATP acts on the underlying bladder afferent nerves to facilitate sensation, there is also the potential for ...
Brierley, Stuart M   +4 more
core   +3 more sources

Xeroderma Pigmentosum: a case report with oral implications [PDF]

open access: yes, 2012
Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Antônio Barreto, Jaison   +5 more
core   +1 more source

Primary plasma cell leukaemia [PDF]

open access: yes, 2009
Plasma cell leukemia (PCL) is a rare form of malignant plasma cell dyscrasia. It can occur as a primary form without prior evidence of multiple myeloma or as a secondary form which is a terminal event in multiple myeloma.
Idris, Faridah   +6 more
core  

Diagnosis of Guillain–Barré syndrome in children and validation of the Brighton criteria [PDF]

open access: yes, 2017
To describe the key diagnostic features of pediatric Guillain–Barré syndrome (GBS) and validate the Brighton criteria. Retrospective cohort study of all children (
Berg, B. (Bianca) van den   +6 more
core   +1 more source

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

open access: yes, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph   +7 more
core   +1 more source

Nodding syndrome: Origins and Natural History of a Longstanding Epileptic Disorder in sub-Saharan Africa. [PDF]

open access: yes, 2013
Repetitive involuntary head nodding was first reported in the 1960s in the Wapogoro tribe of Tanzania. We describe the natural history of head nodding in the Wapogoro tribe, with special reference to the earliest reported dates of onset.
Jilek-Aall, L, Palmer, V S, Spencer, P S
core   +2 more sources

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