Publications by authors named "E K Pivnick"
Mol Genet Metab Rep
December 2024
Article Synopsis
- Autosomal dominant congenital disorder of glycosylation (CDG) type Iw is caused by a mutation in a specific gene and differs from most CDGs, which are typically autosomal recessive.
- A 17-year-old male presented with a range of symptoms including macrocephaly, epilepsy, and developmental delays, but initial genetic tests and biochemical analyses did not indicate a clear diagnosis.
- Genome sequencing revealed a novel mutation that disrupts a glycosylation site, and the patient was ultimately diagnosed with CDG type Iw based on abnormal transferrin profiling, illustrating the variability in genetic disorders and the need for comprehensive testing.
Article Synopsis
- A neonate experienced early apnea and bradycardia, requiring chronic ventilator support just 6 hours after birth, without any clear cardiorespiratory or CNS disorders.
- Genetic testing revealed a mutation in the paired-like homeobox 2b gene, confirming the diagnosis of congenital central hypoventilation syndrome (CCHS), a rare genetic disorder affecting respiratory control.
- Unusually, the neonate also exhibited signs of ocular autonomic nervous system dysregulation, detected during the first day of life, including persistent mild dilated pupils that had limited responsiveness to light.
Front Genet
November 2021
Article Synopsis
- * The report describes a unique case of an infant with KS who also has holoprosencephaly (a brain anomaly) and truncus arteriosus (a rare heart defect), highlighting these conditions are not typically associated with KS.
- * Whole exome sequencing identified a specific genetic mutation in the patient, underscoring the importance of advanced genetic testing to broaden our understanding of KS and aid in accurate diagnoses of congenital anomalies.
JAMA Pediatr
December 2021
Article Synopsis
- * A clinical trial involving 354 infants evaluated the effect of early versus delayed WGS results on clinical management within 60 days, looking at outcomes like changes in treatment and hospitalization duration.
- * Results showed that infants who received WGS results earlier were twice as likely to have their management changed compared to those receiving results later, indicating the potential benefits of timely genetic testing in acute care settings.
Article Synopsis
- - Kagami-Ogata syndrome (KOS) is a rare genetic disorder linked to chromosome 14, characterized by unique facial features, skeletal issues known as "coat hanger ribs," respiratory problems, and developmental delays, first identified in 1991.
- - The study highlights two unrelated male infants diagnosed with KOS after showing the "coat hanger" rib appearance on X-ray, emphasizing the need for awareness of specific symptoms like polyhydramnios and rib abnormalities for early diagnosis.
- - Despite being underdiagnosed, early identification of KOS can lead to better care management and informed decision-making for families, although the overall prognosis is poor.
