Publications by authors named "G Malinger"
Letters to Editor: The risk for clinically significant copy number variants in pregnancies with two soft markers, Geriatriophobia - a new concept in the medical world in Israel.
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- The study aimed to characterize perinatal intracranial hemorrhage (pICH), focusing on differences between cases diagnosed before and after birth and analyzing their causes and clinical patterns.
- Conducted over a decade, the research included 110 pICH cases, revealing that intraventricular hemorrhage (IVH) was most prevalent, particularly in prenatally diagnosed cases, while subpial hemorrhage was exclusively identified postnatally.
- The findings indicated that genetic disorders contributed to nearly a third of pICH cases, highlighting the necessity for next-generation sequencing to better understand genetic factors associated with prenatally diagnosed hemorrhages.
Article Synopsis
- The study examined the occurrence and characteristics of callosal injury in fetuses affected by cytomegalovirus (CMV) fetopathy using a retrospective analysis of patients with confirmed CMV-PCR.
- Among 72 patients, 34.7% showed callosal abnormalities, primarily associated with other central nervous system issues like periventricular hyperechogenicity and calcifications.
- The findings suggest that callosal injury is a common consequence of CMV infection, indicating a worse prognosis and increased risk of neurodevelopmental impairment, with distinct prenatal patterns of injury compared to what is seen postnatally.
Article Synopsis
- * Trio exome sequencing revealed a likely pathogenic variant in the KIDINS220 gene, which is associated with various neurological and developmental disorders.
- * The case highlights a more severe clinical presentation of the KIDINS220 variant, contrasting with previous limited reports primarily focused on cases with ventriculomegaly.