Die Erweiterung der DNA-Reihenuntersuchung auf „Beinahetreffer“

The extension of the DNA serial examination according to § 81h StPO concerning familial searching has created and aggravated problems. The legislator considered the extension to be unobjectionable - a misjudgement that is considerably detrimental to the subjects of this measure due to an encroachment on Article 6 of the German Constitution. However, the relatives of the test persons are also affected in their right to informational self-determination, so that in the present work the proportionality of the DNA serial examination is examined critically. The interaction with DNA phenotyping is also considered. The aim is to preserve the core of the DNA serial examination and to transform it into a proportionate measure by means of concrete proposals for improvement.

Sonographic Evaluation of the Progression of Takayasu’s Arteritis

Takayasu’s arteritis (TA) is a rare nonspecific inflammatory disease of unknown cause predominantly affecting the aorta and its main branches, coronary arteries, and pulmonary arteries of young females. Diagnosis of TA is typically achieved through computed tomography angiography (CTA) or magnetic resonance angiography (MRA), with sonography often used as a tool for surveillance of disease progression following diagnosis. A case of previously diagnosed TA is presented that demonstrates the effective use of sonography to monitor the progression of the disease with serial examination. The use of CTA and MRA allowed for accurate initial diagnosis, whereas sonography proved to be an effective diagnostic surveillance tool for proper tracking of the disease and its clinical manifestations. Increased sonographer awareness of TA including the clinical manifestations and sonographic characteristics associated with progression of the disease can improve patient outcomes in this potentially life-threatening disease.

Correlations between morphology and ultrasound exam in cases with nasal and paranasal sinuses pathology

BACKGROUND. Ultrasonography has been used in rhinology for diagnosing trauma lesions (fractures, hemosinus), second opinion in tumoral pathology, screening for sinusitis, but on a small scale and with future prospects of cost efficiency. OBJECTIVE. We hope to grow awareness of the possible use of ultrasound in screening for nasal and paranasal sinuses pathology at the level of ENT emergency departments. MATERIAL AND METHODS. We describe the technique for ultrasound examination of this region, emphasizing the need for a profound anatomical knowledge characteristic for ENT specialists. Any specialist having access to an ultrasound machine is encouraged to experiment with this imaging procedure. Two cases benefited from the use of ultrasonography in order to receive a better management and a swift treatment. One case presented with a maxillary sinus tumor and another with a paranasal tumor neighbouring the orbit. CONCLUSION. Ultrasonography of nasal and paranasal sinuses permits serial examination without irradiating the patient; it could be implemented as an addition to FAST-like protocols at the level of emergency departments in order to screen for occult head and neck pathology prior to conventional radiology and CT imaging and thus reducing costs

SCD-Biochip: A Functional Assay for Red Cell Adhesion in Sickle Cell Disease

Vaso-occlusion, a hallmark of sickle cell disease (SCD), is caused by abnormal adhesion of blood cells to the endothelium. Analyses of RBC-endothelial interactions are technically challenging, which has limited the widespread use of these evaluations clinically or as a research tool. Here, we present a microfluidic device (SCD-Biochip) that allows serial quantitative and qualitative examination of RBC adhesion and deformability to endothelium associated protein-immobilized microchannels (fibronectin, FN, and laminin, LN), in a closed preprocessing-free system (Fig. 1A). 15 µL of surplus blood, after clinical lab tests had been completed, was taken from subjects with HbSS (transfused, non-transfused, and with high or low levels of HbF), HbSC, HbSBeta-thalassemia and from control subjects (HbAA). Samples were injected, without processing, on to FN- and LN-immobilized microchannels. This was followed by wash steps at or above the physiological flow velocities of post-capillary venules (0-10 mm/s). Adhered RBCs were then quantified. We observed a statistically significant difference in RBC adherence per unit area to FN (Fig. 1B), after 0.8 mm/s flow velocity (low wash), amongst RBCs from subjects with HbSS (90±84.0, n=26), with compound heterozygous HbSC or Sβthalassemia (21±6.8, n=4), or with normal hemoglobin (HbAA, 4±3, n=10, Mann-Whitney, p<0.05). Strikingly, this test was sensitive to physiological changes that were not well-reflected in routine lab tests (e.g., adherence to FN did not differ between samples from transfused or non-transfused HbSS patients (77±62, n=6, compared with 88.1±82.6, n=17, P=0.75, respectively), despite routine scheduled transfusions of HbAA-containing RBCs in the former. Samples from HbSS subjects with a low HbF were more likely to be highly adherent to FN than were samples from subjects with a high HbF (5/7 with <8% HbF compared with 1/10 ≥8% HbF, p=0.035). Increased adherence of HbSS- (707±904.8, n=7), compared with HbAA-containing RBCs (9±6, n=7), to LN at low wash was also seen. Of interest, a single sample from an HbSS subject with acute pain showed an adherence to FN and LN of 250 and 2176, respectively. Qualitatively, HbSS-containing RBCs showed decreased adherence to FN at increased flow rates; adhered RBCs decreased from 90±84 (n=25) at low flow wash to 69±52 (n=13) at 3.3 mm/s (intermediate flow) and 36±48.2 (n=11) at 41.7 mm/s (high flow). Analyses revealed deformable HbAA- and HbSS-containing RBCs, but only HbSS-containing samples also had a significant population of non-deformable RBCs. We analyzed single cell deformation and detachment in the presence of physiological fluid flow. Deformable HbAA- and HbSS-containing RBCs detached at relatively low flow rates (6.11±0.48 n=3, and 9.3±1.44 n=6, respectively), compared to non-deformable HbSS-containing RBCs (40±6.97 n=5). Deformable HbAA- or HbSS-containing RBCs displayed a single adhesion pivot point, compared to non-deformable HbSS-containing RBCs, which showed multiple adhesion sites. At highest flow (41.7mm/s), 75±17% (n=9) of adhered RBCs were non-deformable on FN. Of note, flow evaluations revealed two characteristic RBC profiles in HbSS subjects: either one in which adherent non-deformable cells predominated at all flow rates or one in which less adherent deformable cells comprised >50% of the RBC population. The SCD-Biochip evaluates, simply and with small blood sample volumes, complex biophysical properties of adhesion and deformability, which reflect clinical phenotypes, including hemoglobin composition. This adaptable technology may give important biophysical insights into disease pathophysiology when widely applied in SCD. Figure 1. A functional assay for RBC adhesion in SCD (A) The SCD-Biochip allows serial examination of RBC adhesion and deformability to endothelium-associated proteins and provides closed, preprocessing-free, and direct analysis of blood. (B) Identification of different phenotypes in SCD-Biochip based on adhesion of RBCs (per unit area of 32 mm2) to fibronectin immobilized microchannels. Figure 1. A functional assay for RBC adhesion in SCD (A) The SCD-Biochip allows serial examination of RBC adhesion and deformability to endothelium-associated proteins and provides closed, preprocessing-free, and direct analysis of blood. (B) Identification of different phenotypes in SCD-Biochip based on adhesion of RBCs (per unit area of 32 mm2) to fibronectin immobilized microchannels. Disclosures No relevant conflicts of interest to declare.