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http://dx.doi.org/10.14309/crj.2014.5 | DOI Listing |
ARP Rheumatol
January 2024
Unidade Local de Saúde do Alto Minho.
Surg Radiol Anat
January 2025
Ovidius" University From Constanţa, Constanța, Romania.
Purpose And Background: The trigeminal artery is a rare anatomical variant, representing an embryonic vestige of the anastomosis between the internal carotid artery and the posterior circulator system, that can be asymptomatic or could have vast clinical manifestations produced by insufficient flow or by vascular nervous conflicts. This study is an anatomical presentation of 3 trigeminal artery cases observed at Medimar Imagistic Services Constanta.
Methods: The 3 trigeminal artery cases were discovered on a 860 magnetic resonance angiographies (0.
Clin Genet
January 2025
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle.
View Article and Find Full Text PDFJ Cutan Pathol
January 2025
Department of Dermatology, San Antonio Uniformed Services Health Consortium (SAUSHEC), San Antonio, Texas, USA.
Panniculitides are a group of inflammatory disorders of the subcutaneous fat that have been reported as a rare complication of both a serine threonine kinase BRAF inhibitor monotherapy and BRAF inhibition in combination with a mitogen activated protein kinase (MEK) inhibitor combination therapy used to treat metastatic melanoma. The cutaneous manifestations of BRAF and BRAF/MEK therapies have been well documented, but neutrophilic panniculitis remains a less common complication with fewer case reports. Physician awareness of this complication when following patients on similar targeted therapies can decrease delays in appropriate management.
View Article and Find Full Text PDFAnn Biol Clin (Paris)
January 2025
Hôpital d'Instruction des Armées, Clermont-Tonnerre, Laboratoire Médicale, Brest, France.
This observation reports the case of an occupational allergic asthma in a laboratory technician, caused by exposure to formaldehyde. She experienced feelings of discomfort during low exposure, below the regulatory exposure thresholds. Sent to occupational medicine, signs of an asthma attack were noted by the doctor.
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