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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFFrom Dizziness to Dysphagia: A Complex Presentation of Lateral Medullary Syndrome.
Cureus
November 2024
Internal Medicine, AdventHealth New Smyrna Beach, New Smyrna Beach, USA.
Lateral medullary syndrome (LMS), also known as Wallenberg syndrome, is a rare neurological condition most commonly resulting from occlusion of the posterior inferior cerebellar artery (PICA). This syndrome is characterized by a constellation of symptoms including vertigo, ataxia, sensory deficits, and cranial nerve abnormalities, which arise due to infarction of the lateral medulla. We report the case of a 74-year-old female patient with a history of hypertension who presented to the emergency department with acute onset of vertigo and an unsteady gait.
View Article and Find Full Text PDFSkeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Clin Genet
November 2024
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- - Mulibrey nanism (MUL) is a genetic growth disorder linked to mutations in the TRIM37 gene, leading to growth failure, distinct facial features, heart issues, infertility, and higher cancer risk.
- - A study of 33 MUL patients, aged 4.5-48 years, assessed their long bones and spine through radiographs, revealing significant skeletal abnormalities such as slender and bowed long bones, thick cortices, and tall vertebral bodies.
- - The study confirmed that all patients had skeletal changes, with 58% showing fibrous dysplasia and 52% having a history of fractures, highlighting TRIM37's critical role in skeletal development and maintenance.
Abnormalities along the cortico-medullary junction on brain MRI caused by 1,2-dichloroethane-induced toxic encephalopathy.
BMC Neurol
November 2024
Department of Neurology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang, Jiangxi Province, China.
Background: 1,2-dichloroethane (DCE) induced toxic encephalopathy, a rare toxic disease of the central nervous system, is mainly reported in developing countries. Although clinicians have got some understanding about the clinical and neuroimaging features of 1,2-DCE-induced toxic encephalopathy, abnormality along the cortico-medullary junction on diffusion-weighted image (DWI) mimicking neuronal intranuclear inclusion disease (NIID) has not yet been described in this entity.
Case Presentation: We reported a patient with 1,2-DCE-induced toxic encephalopathy who was admitted to our department due to a 7-day history of nausea, vomiting, and cognitive decline.
A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.
Cureus
October 2024
Endocrinology, Diabetes, and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT.
Cushing disease (CD), a rare endocrine disorder characterized by a pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH), leads to overproduction of cortisol by the adrenal glands and, depending on severity and duration, manifests with a broad spectrum of clinical signs and symptoms, ranging from classical features to more common conditions seen in the general population. Discovery of molecular and pathogenic mechanisms related to the development of CD tumors has increased in recent years, almost two-thirds of the somatic variants cases have been linked to the USP8 gene, while very rare germline variants in MEN1 and AIP genes have been associated with pituitary adenomas. Variants affecting the RET proto-oncogene, which encodes a receptor tyrosine kinase involved in cell growth and differentiation, are implicated in the development of medullary thyroid carcinoma (MTC) and its hereditary form, multiple endocrine neoplasia type 2 (MEN2).
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