Holoprosencephaly is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. Holoprosencephaly spectrum in the fetus is often associated with other anomalies, particularly of the face and extremities. Here we present three different cases of patients with holoprosencephaly who failed to attain routine sonography during 11-20 weeks owing to some unavoidable circumstances. Two of them were diagnosed during the third trimester and one in the late second trimester. Ultrasound findings of associated anomalies were confirmed after a clinical examination of the delivered fetuses.
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http://dx.doi.org/10.1136/bcr-03-2012-6129 | DOI Listing |
Acta Radiol
January 2025
R Madhavan Nayar Center for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Background: The role of imaging in autoimmune encephalitis (AIE) remains unclear, and there are limited data on the utility of magnetic resonance imaging (MRI) to diagnose, treat, or prognosticate AIE.
Purpose: To evaluate whether MRI is a diagnostic and prognostic marker for AIE and assess its efficacy in distinguishing between various AIE subtypes.
Material And Methods: We analyzed data from 96 AIE patients from our prospective autoimmune registry.
Front Pharmacol
December 2024
Department of Urology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
Objective: This research project aimed to identify and analyze the top 30 drugs most commonly associated with kidney stone formation using data from the U.S. Food and Drug Administration's Adverse Event Reporting System (FAERS) database.
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December 2024
Academic Affairs and Research, Orlando Regional Medical Center, Orlando, USA.
Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm (MPN) disorder characterized by persistent thrombocytosis and characterized by frequent association with cellular genetic alterations. The 10%-15% of ET that is not associated with genetic abnormalities is known as triple-negative essential thrombocythemia (TNET). A common complication observed in around 20% of ET patients is the development of acquired von Willebrand disease (AvWD).
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December 2024
Basic Sciences, Hawler Medical University, Erbil, IRQ.
Background Multiple sclerosis is a chronic, progressive, disabling disease associated with a high rate of infection, evidence of chronic inflammation, and a high mortality rate. Abnormalities of serum cytokines and changes in the activity of inflammatory cells were associated with relapsing-remitting multiple sclerosis (MS-RR). This study aims to introduce new inflammatory ratios derived from hematological and lipid indices as discriminators of T-helper (Th)-1/Th-2 activity in RR-MS.
View Article and Find Full Text PDFMYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions.
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