Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00486077 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda.
Case Rep Dermatol Med
January 2025
Department of Dentistry and Oral Health, Amana Regional Referral Hospital, Ministry of Health, Dar es Salaam, Tanzania.
Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population.
View Article and Find Full Text PDFCase Report: Diagnosis and treatment of with central nervous system anomalies in one patient.
Front Pediatr
January 2025
Department of Pediatrics, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, China.
Introduction: This article reports a detailed case of a patient with who exhibited epileptic status and dermatologic symptoms.
Case Presentation: A 5-month-old female patient was brought to our hospital due to status epilepticus, with erythematous vesicular skin lesions on her trunk and extremities. Routine magnetic resonance imaging revealed infarction, ischemia, and encephalomalacia.
Using cortical organoids to understand the pathogenesis of malformations of cortical development.
Front Neurosci
January 2025
Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Malformations of cortical development encompass a broad range of disorders associated with abnormalities in corticogenesis. Widespread abnormalities in neuronal formation or migration can lead to small head size or microcephaly with disorganized placement of cell types. Specific, localized malformations are termed focal cortical dysplasias (FCD).
View Article and Find Full Text PDFDiscrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.
J Endocr Soc
January 2025
Department of Pathology, Stanford University, Stanford, CA 94304, USA.
In the last 10 years the field of prenatal diagnosis has been significantly reshaped followed by the implementation of noninvasive prenatal cell-free DNA (cfDNA) testing methodologies in clinical practice. Based on a superior performance and higher sensitivity and specificity than the former practice of biochemical markers screening, the American College of Obstetricians and Gynecologists and American College of Medical Genetics and Genomics recommend noninvasive prenatal cfDNA screening for trisomy 21, 18, 13, and sex chromosome aneuploidy to all pregnant people. While cfDNA screening is helpful in risk assessment for the most common autosomal trisomies, cfDNA also provides information about fetal sex chromosomes.
View Article and Find Full Text PDFReport of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
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!