Publications by authors named "Catalina Maftei"
Article Synopsis
- A 2.5-month-old girl was diagnosed with methylmalonic acidemia (MMA) due to a deficiency in transcobalamin II, affecting vitamin B12 metabolism, which resulted in failure to thrive and severe low blood cell counts (pancytopenia).
- She developed opportunistic Cytomegalovirus infections and pneumonia, leading to severe respiratory distress syndrome (ARDS) and immune reconstitution inflammatory syndrome (IRIS) after starting vitamin B12 treatment.
- In treating children with lung-related ARDS, doctors should not wait for normal lymphocyte counts to perform necessary invasive procedures for identifying infections, and quick high-dose corticosteroid treatment is crucial for managing inflammation linked to IRIS.
Article Synopsis
- - The study aimed to evaluate the effectiveness of combining comparative genomic hybridization and single-nucleotide polymorphism (CGH/SNP) analyses for risk stratification in pediatric acute lymphoblastic leukemia (ALL) compared to traditional cytogenetic methods.
- - Researchers analyzed data from 135 patients aged 1-18 diagnosed with ALL, finding that CGH/SNP had a significantly lower failure rate and faster result turnaround (5.8 days) than conventional karyotyping (10.7 days).
- - CGH/SNP detected crucial gene deletions, particularly ETV6, which was associated with better event-free survival, indicating that CGH/SNP could enhance diagnostic accuracy and prognostic evaluation in pediatric ALL.
There are more than 900 genetic syndromes associated with oral manifestations. These syndromes can have serious health implications, and left undiagnosed, can hamper treatment and prognosis later in life. About 6.
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- Genomic copy number variants (CNVs), particularly deletions and duplications, have been linked to cognitive ability, but their specific effects on intelligence are still not fully understood, especially for duplications.
- The study involved analyzing CNVs from over 24,000 individuals and used statistical models to show that deletions decrease intelligence more significantly than duplications, with certain genes being intolerant to haploinsufficiency playing a key role.
- The findings indicate that while a small fraction of genes has a significant negative impact on intelligence, the overall effects on cognition may stem from complex interactions within the genome rather than just a few specific pathways.
Glycosaminoglycans (GAG) are long, unbranched heteropolymers with repeating disaccharide units that make up the carbohydrate moiety of proteoglycans. Six distinct classes of GAGs are recognized. Their synthesis follows one of three biosynthetic pathways, depending on the type of oligosaccharide linker they contain.
View Article and Find Full Text PDFJoubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population.
View Article and Find Full Text PDFAddition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations in two unrelated subjects with different clinical features. The first presented with acute lactic acidosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying at 21 months.
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