Results 41 to 50 of about 452 (139)

Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

Caspian Journal of Neurological Sciences, 2021
Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC.
Maryam Sedghi, Mohammad Hossein Hemat
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

A rare cause of generalized seizures: agenesis and Lipoma of the corpus Callosum

The Pan African Medical Journal, 2014
An 18 years old young patient with no history presented to the emergency department suffering from episodes of generalized seizures and atypical headache without fever, the onset of symptoms dated back to two months.
Ahmed Belkouch, Abdelilah Mouhsine
doaj   +1 more source

Neuropsychiatric symptoms related to agenesis of the corpus callosum. A case report

European Psychiatry, 2023
Introduction We present the case of a 41-year-old male patient with multiple psychiatric diagnoses, he was diagnosed with agenesis of the corpus callosum, which explains his clinical presentation.
A. Izquierdo De La Puente, P. del Sol Calderón, M. García Moreno, R. Blanco Fernandez, M. Vizcaino Da Silva   +4 more
doaj   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report

Children, 2022
Trisomy 8 mosaicism syndrome (T8MS) or “Warkany’s syndrome 2” is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body.
Carmela Settimo, Lilla Bonanno, Maria Tresoldi, Rosalia Muratore, Francesca Cucinotta, Emanuela Tripodi, Adriana Piccolo, Smeralda Anchesi, Caterina Impallomeni   +8 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Real‐Time Targeted Slice Reacquisition for Motion‐Corrupted Fetal Diffusion MRI

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To develop and evaluate a real‐time framework for targeted slice‐level reacquisition in fetal diffusion MRI. Methods A DW‐SE‐EPI sequence was modified to support independent diffusion preparation per slice. A pathology‐robust nnU‐Net segmentation network, updated from a previously published baseline (V1) using pathological fetal cases ...
Jordina Aviles Verdera, Sara Neves Silva, Susanne Schulz‐Heise, Sarah McElroy, Mary Rutherford, Joseph V. Hajnal, Raphael Tomi‐Tricot, Jana Hutter   +7 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Sex differences and other correlations of Human Corpus Callosum: A review

National Journal of Clinical Anatomy, 2017
There is a wide spectrum in the field of sex differences and other correlation in human corpus callosum. More recent literatures have raised doubts as to whether the anatomic size of the corpus is actually different.
D K Sharma
doaj   +1 more source