Meckel's syndrome is an autosomal recessive disorder classically defined by occipital encephalocele, multicystic kidneys and polydactyly. However, a very wide phenotypic spectrum is characteristic of Meckel's syndrome. The prenatal diagnosis of this lethal syndrome is approached with ultrasound examination. The karyotype has to be done in order to make the differential diagnosis, especially with Trisomy 13 or 18. The rate of the Meckel's syndrome's gene is 1/400. The isolation of the specific gene will be soon helpful to define the Meckel's syndrome precisely.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Concurrent Meckel's Diverticulum and Sjögren Syndrome: A Case of Intestinal Obstruction.
Am J Case Rep
January 2025
Department of General Surgery, Bahrain Defense Force Hospital, Riffa, Bahrain.
BACKGROUND Meckel's diverticulum is a congenital diverticulum that contains all normal layers of the gastrointestinal wall. In adults, Meckel's diverticulum can present with bowel obstruction, the most common presentation, in 35.6% of cases.
View Article and Find Full Text PDFIntraoperative sensitization in trigeminal region caused by postherpetic neuralgia: a case report.
J Med Case Rep
January 2025
Department of Pain, The Third Xiangya Hospital and Institute of Pain Medicine, Central South University, Changsha, China.
Background: Interventional therapy of trigeminal neuropathic pain has been well documented; however, intraoperative monitoring and management of pain hypersensitivity remains barely reported, which may pose a great challenge for pain physicians as well as anesthesiologists.
Case Presentation: A 77-year-old Han Chinese male, who suffered from severe craniofacial postherpetic neuralgia, underwent pulsed radiofrequency of trigeminal ganglion in the authors' department twice. The authors successfully placed a radiofrequency needle through the foramen ovale during the first procedure with local anesthesia and intravenous sedation (dexmedetomidine).
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFA Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing.
Prenat Diagn
January 2025
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Clin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!