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Late Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report.
J Neurol Surg Rep
January 2025
Department of Neurosurgery and Spine Surgery, Qatif Central Hospital, Qatif, Saudi Arabia.
A rare variant of congenital aqueductal stenosis (CAS) is known as adult-onset CAS, characterized by the emergence of symptoms during adulthood. A 35-year-old man presented complaining of acute-onset headache and vomiting. Magnetic resonance imaging of the brain revealed an acute hydrocephalus due to an aqueductal web.
View Article and Find Full Text PDFLateral rectus superior plication using non-absorbable sutures for adult onset esotropia.
Strabismus
January 2025
Department of Ophthalmology, Shamir Medical Center, Zerifin, Israel.
: divergence insufficiency esotropia is a common cause for acquired esotropia and diplopia in adults. We present a novel procedure, superior plication of the lateral rectus using non-absorbable sutures, to address this condition and analyze the surgical outcomes. : This is a retrospective cohort analysis.
View Article and Find Full Text PDFAdult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report.
Am J Med Genet A
January 2025
Department of Endocrinology, The Fifth People's Hospital of Zhuhai, Zhuhai, China.
Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder caused by biallelic variants in the transient receptor potential melastatin 6 (TRPM6) gene, typically presenting in infancy. Currently, there is a lack of reports in the literature on adult-onset cases. This case report describes a 51-year-old male with adult-onset HSH, presenting with limb weakness, muscle spasms, and electrolyte imbalances, including severe hypomagnesemia (0.
View Article and Find Full Text PDFD,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).
JIMD Rep
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Adult and Paediatric National Metabolic Service Starship Children's Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand Tāmaki Makaurau Auckland New Zealand.
Background: Deficiency of the Glut1 transporter due to mono-allelic variants in causes hypoglycorrhachia, resulting in a neurological spectrum from neonatal epilepsy to adult-onset paroxysmal movement disorders (PMD). The brain utilises ketone bodies as an alternative energy source to glucose. Thus, early initiation of the ketogenic diet (KD) is standard care for Glut1 deficiency syndrome (Glut1DS).
View Article and Find Full Text PDFTracheobronchial adenoid cystic carcinoma in pregnancy.
BMJ Case Rep
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Department of Endocrinology and Obstetric Medicine, Queensland Health, Brisbane, Queensland, Australia
A case of tracheobronchial adenoid cystic carcinoma diagnosed around the time of conception and its progression during pregnancy is presented. The evidence that pregnancy may be associated with the progression of adenoid cystic cancer is discussed. It is important to consider tracheal disease before making a diagnosis of adult-onset asthma.
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