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| http://dx.doi.org/10.1016/j.aace.2023.06.003 | DOI Listing |
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Dyke-Davidoff-Masson syndrome: A rare case of hemiatrophy with chronic seizure disorder.
Radiol Case Rep
March 2025
Department of Radiology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Sawangi, Meghe, Wardha, India.
Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological disorder characterized by cerebral hemiatrophy, leading to seizures, hemiparesis, and cognitive deficits. We report the case of a 20-year-old female with a history of chronic seizure disorder and left-sided hemiparesis. The patient experienced her first seizure at 6 months of age, followed by recurrent generalized tonic seizures throughout childhood.
View Article and Find Full Text PDF[Atrophic kidney-like lesion: a clinicopathological study of three cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Ningbo Clinical Pathology Diagnosis Center, Ningbo315000, China.
To investigate the clinicopathological characteristics, immunophenotypes, diagnostic criteria and differential diagnosis of atrophic kidney-like lesion (AKLL). Three cases of AKLL were collected from April 2021 to October 2023 at the Xiangya Hospital of Central South University, Changsha, Zhejiang Provincial People's Hospital, Hangzhou and Ningbo Clinical Pathology Diagnosis Center, Ningbo, China. The clinical, morphological, and immunohistochemical characteristics were analyzed.
View Article and Find Full Text PDFIntracranial Structural Malformations in Children in Tibet: CT and MRI Findings in a Single Tertiary Center.
Curr Med Imaging
January 2025
Department of Radiology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, P.R.China.
Objectives: The objective of this study was to summarize the findings of children's intracranial congenital or developmental malformations found during imaging procedures in the Tibetan plateau.
Methods: We retrospectively reviewed the imaging data of the suspected patients who presented with the central nervous system (CNS) malformations and were enrolled either through the clinic or after ultrasound examinations between June 2019 and June 2023 in our institution. All imaging data were interpreted by two experienced radiologists through consensus reading.
Posterior segment findings in a patient with a biallelic pathogenic variant.
Am J Ophthalmol Case Rep
December 2024
Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Article Synopsis
- A 25-year-old man diagnosed with retinitis pigmentosa (RP) showed distinct posterior segment abnormalities during examination, including bone spicule pigmentation and retinal atrophy.
- Findings from advanced imaging techniques like optical coherence tomography (OCT) revealed unique wavy protrusions on the inner retinal surface, leading to non-cystic petaloid maculopathy and changes in choroidal thickness.
- The patient's condition not only highlighted the retinal involvement linked to a genetic variant but also raised concerns about potential syndromic associations, including a major depressive disorder requiring hospitalization.
Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.
Aust J Gen Pract
December 2024
PhD, GDipGenetCouns, Honorary Principal Fellow, Department of Paediatrics, University of Melbourne, Melbourne, Vic; Associate Professor, Head of Service Development, Reproductive Genetics and Group Leader @ Reproductive Genetic Counselling, Victorian Clinical Genetics Services, Murdoch Children@s Research Institute, Melbourne, Vic
Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.
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