Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Central nervous system vascular disorders in the neonate comprise structural anomalies or malformations of arteries and veins and physiologic alterations of cerebral blood flow, which can mimic structural vascular disease. Clinical , imaging, and transcatheter therapeutic aspects of neonatal cerebral vascular malformations are described. Symptomatic high-flow vascular malformations characteristically present with cardiac failure and associated systemic problems in the neonate, whereas infants typically present with macrocephaly and hydrocephalus and older children with hemorrhage, developmental delay, or focal deficits. Neonatal cerebral hemorrhage is typically primary or associated with immaturity, parturitional trauma, or coagulopathy. Likewise, cerebral ischemic lesions are more likely secondary to hypoxic, ischemic events than to thromboembolic or structural cerebrovascular occlusive disease. The role of the current noninvasive imaging modalities in each of these clinical problems is reviewed and illustrated.
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PMID:Neonatal central nervous system vascular disorders. 940 72

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old boy from Kansas City. We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay. The neurological examination revealed below-expected performance in coordination and balance tests, dyspraxia, and hand-mouth synkinesia. Expressive language was characterized by phono-articulatory imprecision, abundance of phonological processes and morphosyntactic immaturity. Neuropsychological assessment revealed intellectual disability with impairment of verbal and executive functions. Exome sequencing was performed. Analysis revealed a homozygous 2-nucleotide duplication c.597_598dup p.(Ser200Ilefs*55) in the KPTN gene, which is predicted to lead to a translational frameshift and formation of a premature stop codon. The phenotypic profile is similar to the cases described in the other families. Presence of macrocephaly and delayed development indicate the possibility of KPTN gene variation. Genetic testing should be carried out at an early stage in order to reach a timely diagnosis.
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PMID:KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report. 3199 56