Myelodysplastic syndrome in a child with 15q24 deletion syndrome

15q24 deletion syndrome is a recently-described chromosomal disorder, characterized by developmental delay, growth deficiency, distinct facial features, digital abnormalities, loose connective tissue, and genital malformations in males. To date, 19 patients have been reported. We report on a 13-year-old boy with this syndrome manifesting childhood myelodysplastic syndrome (MDS). He had characteristic facial features, hypospadias, and mild developmental delay. He showed neutropenia and thrombocytopenia for several years. At age 13 years, bone marrow examination was performed, which showed a sign suggestive of childhood MDS: mild dysplasia in the myeloid, erythroid, and megakaryocytic cell lineages. Array comparative genomic hybridization (array CGH) revealed a de novo 3.4?Mb 15q24.1q24.3 deletion. Although MDS has not been described in patients with the syndrome, a boy was reported to have acute lymphoblastic leukemia (ALL). The development of MDS and hematological malignancy in the syndrome might be caused by the haploinsufficiency of deleted 15q24 segment either alone or in combination with other genetic abnormalities in hematopoietic cells. Further hematological investigation is recommended to be beneficial if physical and hematological examination results are suggestive of hematopoietic disturbance in patients with the syndrome.     

Effects of unilateral jaw clenching on cerebral/systemic circulation and related autonomic nerve activity

Jaw clenching (clenching) is the result of an isometric contraction of jaw closing muscles. Because of the location of working muscles and afferent information during tooth contact, the effect of clenching on the cerebral and systemic circulation might differ from that of isometric limb exercise. This study aimed to investigate the characteristic changes in cerebral and systemic circulation during jaw clenching by comparing those during handgrip exercise. Subjects were 17 right-handed men. Bilateral middle cerebral arterial blood flow velocity (MCAV), electromyography (EMG) of contracting muscles, heart rate (HR) and blood pressure (BP) were measured during unilateral handgrip exercise and clenching tasks. Autonomic nerve activity was evaluated by analyzing fluctuations in HR and BP. MCAV was significantly increased during the task with significantly higher values on the non-working than working side irrespective of unilateral handgrip or unilateral jaw clenching. Changes in HR during jaw clenching were lower than those during handgrip exercise, and changes in vaso-motor sympathetic nerve activity during left jaw clenching were lower than those during left handgrip exercise. The present results indicate that, compared with handgrip exercise, unilateral jaw clenching promotes bilateral activation of MCAV with smaller effects on cardiac output and sympathetic nervous system activity.     

Recent advances in diagnostic approaches for sub-arachnoid hemorrhage

Sub-arachnoid hemorrhage (SAH) has been easily one of the most debilitating neurosurgical entities as far as stroke related case mortality and morbidity rates are concerned. To date, it has case fatality rates ranging from 32-67%. Advances in the diagnostic accuracy of the available imaging methods have contributed significantly in reducing morbidity associated with this deadly disease. We currently have computed tomography angiography (CTA), magnetic resonance angiography (MRA) and the digital subtraction angiography (DSA) including three dimensional DSA as the mainstay diagnostic techniques. The non-invasive angiography in the form of CTA and MRA has evolved in the last decade as rapid, easily available, and economical means of diagnosing the cause of SAH. The role of three dimensional computed tomography angiography (3D-CTA) in management of aneurysms has been fairly acknowledged in the past. There have been numerous articles in the literature regarding its potential threat to the conventional "gold standard" DSA. The most recent addition has been the introduction of the fourth dimension to the established 3D-CT angiography (4D-CTA). At many centers, DSA is still treated as the first choice of investigation. Although, CT angiography still has some limitations, it can provide an unmatched multi-directional view of the aneurysmal morphology and its surroundings including relations with the skull base and blood vessels. We study the recent advances in the diagnostic approaches to SAH with special emphasis on 3D-CTA and 4D-CTA as the upcoming technologies.     

Improvement of image quality of time-domain diffuse optical tomography with l sparsity regularization

An l(p) (0 < p ≤ 1) sparsity regularization is applied to time-domain diffuse optical tomography with a gradient-based nonlinear optimization scheme to improve the spatial resolution and the robustness to noise. The expression of the l(p) sparsity regularization is reformulated as a differentiable function of a parameter to avoid the difficulty in calculating its gradient in the optimization process. The regularization parameter is selected by the L-curve method. Numerical experiments show that the l(p) sparsity regularization improves the spatial resolution and recovers the difference in the absorption coefficients between two targets, although a target with a small absorption coefficient may disappear due to the strong effect of the l(p) sparsity regularization when the value of p is too small. The l(p) sparsity regularization with small p values strongly localizes the target, and the reconstructed region of the target becomes smaller as the value of p decreases. A phantom experiment validates the numerical simulations.