22 research outputs found
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
BACKGROUND:
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The underlying cause of the syndrome is a submicroscopic deletion in the chromosomal region 9q34.3 or disruption of the euchromatin histone methyl transferase 1.
CASE PRESENTATION:
We describe two Hungarian Kleefstra syndrome patients, one with the classic phenotype of the syndrome, the diagnosis was confirmed by subtelomeric FISH. Meanwhile in our second patient beside the classic phenotype a new symptom - abnormal antiepileptic drug metabolic response - could be observed. Subtelomere FISH confirmed the 9q34.3 terminal deletion. Because of the abnormal drug metabolism in our second patient, we performed array CGH analysis as well searching for other rearrangements. Array CGH analysis indicated a large - 1.211 Mb -, deletion only in the 9q subtelomeric region with breakpoints ch9:139,641,471-140,852,911.
CONCLUSIONS:
This is the first report on Kleefstra syndrome in patients describing a classical and a complex phenotype involving altered drug metabolism.
KEYWORDS: 9q subtelomeric deletion syndrome; Drug metabolism; Epilepsy; Kleefstra syndrom
Value of using adaptive statistical iterative reconstruction-V (ASIR-V) technology in pediatric head CT dose reduction
Head CT: Image quality improvement with ASIR-V using a reduced radiation dose protocol for children
Interleukins (from IL-1 to IL-38), interferons, transforming growth factor β, and TNF-α: Receptors, functions, and roles in diseases.
Self-Organized Traveling Chemo-Hydrodynamic Fingers Triggered by a Chemical Oscillator
Pulsatile chemo-hydrodynamic patterns due to a coupling between an oscillating chemical reaction and buoyancy-driven hydrodynamic flows can develop when two solutions of separate reactants of the Belousov-Zhabotinsky reaction are put in contact in the gravity field and conditions for chemical oscillations are met in the contact zone. In regular oscillatory conditions, localized periodic changes in the concentration of intermediate species induce pulsatile density gradients, which, in turn, generate traveling convective fingers breaking the transverse symmetry. These patterns are the self-organized result of a genuine coupling between chemical and hydrodynamic modes. © 2014 American Chemical Society.SCOPUS: ar.jinfo:eu-repo/semantics/publishe