Caudal Regression Syndrome is a rare anomaly affecting different systems in the caudal portion of the fetus. Peno-scrotal transposition is a rare condition of variable severity often associated with Caudal Regression Syndrome. We report a case of Caudal Regression Syndrome with perineal ano-rectal duplication, incomplete peno-scrotal transposition, perineal hypospadias, chordee, and thoracic hemivertebrae.
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Elife
January 2025
Instituto Gulbenkian de Ciência, Rua da Quinta Grande, Oeiras, Portugal.
During the trunk to tail transition the mammalian embryo builds the outlets for the intestinal and urogenital tracts, lays down the primordia for the hindlimb and external genitalia, and switches from the epiblast/primitive streak (PS) to the tail bud as the driver of axial extension. Genetic and molecular data indicate that Tgfbr1 is a key regulator of the trunk to tail transition. Tgfbr1 has been shown to control the switch of the neuromesodermal competent cells from the epiblast to the chordoneural hinge to generate the tail bud.
View Article and Find Full Text PDFSpine (Phila Pa 1976)
January 2025
The Permanente Medical Group, Oakland, CA.
Study Design: A retrospective cohort study.
Objective: To determine if there is a difference in reoperations for adjacent segment disease (operative ASD) and nonunion (operative nonunion) in lumbar fusions that stop at T10/T11/T12 versus L1.
Summary Of Background Data: Current lumbar spine surgery is based on the belief that ASD occurs if fusions are stopped at L1 although there is varying evidence to support this assumption.
Neurol Sci
January 2025
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder ranging from mild cognitive impairment (MCI) to AD dementia. Abnormal cerebral perfusion alterations, influenced by amyloid-beta (Aβ) accumulations, have been implicated in cognitive decline along this spectrum.
Objective: This study investigates the relationship between cerebrospinal fluid (CSF) Aβ1-42 levels and regional cerebral blood flow (CBF) changes across the AD continuum using the Arterial Spin Labeling (ASL) technique.
Brain Commun
December 2024
Division of Psychiatry, University College London, London W1T 7NF, UK.
Hyperphosphorylated tau accumulation is seen in the noradrenergic locus coeruleus from the earliest stages of Alzheimer's disease onwards and has been associated with symptoms of agitation. It is hypothesized that compensatory locus coeruleus-noradrenaline system overactivity and impaired emotion regulation could underlie agitation propensity, but to our knowledge this has not previously been investigated. A better understanding of the neurobiological underpinnings of agitation would help the development of targeted prevention and treatment strategies.
View Article and Find Full Text PDFJ Affect Disord
January 2025
Centre for Clinical Neurosciences, McMaster University, Canada; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada; Mood Disorders Treatment and Research Centre and Women's Health Concerns Clinic, St. Joseph's Healthcare Hamilton, ON, Canada. Electronic address:
Background: Neurofilament light chain (NfL) is a cytoskeletal protein that supports neuronal structure. Blood NfL levels are reported to be higher in diseases where myelin is damaged. Studies investigating intracortical myelin (ICM) in bipolar disorder (BD) have reported deficits in ICM maturation over age.
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