Olbrzymi naczyniak jamisty móżdżku u 4-miesięcznego niemowlęcia. Opis przypadku i przegląd piśmiennictwa

Cavernous malformations (CMs) are rare vascular lesions that affect 0.4–0.9% of the population. The diagnosis of CMs is simple in most typical cases although some lesions may present unusual imaging features: localization, signal intensity, or size. Extremely rare giant CMs can mimic neoplastic lesion because of their size. We report a case of giant cerebellar CM that is more than 6 cm in size, diagnosed in 4-month-old boy. We discuss magnetic resonance findings and histopathological features of this lesion.Naczyniaki jamiste to rzadkie zmiany naczyniowe, występujące u 0,4–0,9% populacji. Ich rozpoznanie w większości typowych przypadków jest łatwe, ale niektóre zmiany mogą stwarzać trudności diagnostyczne związane z nietypową lokalizacją, ich intensywnością sygnału lub wielkością. Niezwykle rzadkie gigantyczne naczyniaki jamiste mogą imitować zmiany nowotworowe. Autorzy przedstawiają 4-miesięczne niemowlę, u którego rozpoznano olbrzymi naczyniak jamisty zlokalizowany w móżdżku o wymiarze większym niż 6 cm. Omawiają cechy naczyniaka w badaniu za pomocą rezonansu magnetycznego oraz wynik badania histopatologicznego

Permanent and reliable inactivation of Huntington's disease mutation via customized CRISPR/SaCas9 gene editing

Allele-specific CRISPR/SaCas9 gene editing therapy targeting the mutated HTT exon-1 would decrease the formation of mHTT aggregates reducing the neuronal dysfunction and striatum atrophy

Indirect organogenesis of faba bean (Vicia faba L. minor)

Using four Polish Vicia faba L. minor cultivars (Bronto, Dino, Tibo, Nadwiślański) we obtained callus from epicotyl fragments collected from 7- and 14-day-old seedlings and from cotyledonary nodes of immature seeds. Callus induction efficiency varied from 81% to 97% depending on the origin of the explant. Shoots regenerated only from the cotyledonary nodes of all tested cultivars. On average, 50% of the explants grown on MS medium containing 1.0 mg dm-3 NAA, 0.5 mg dm-3 BAP, 0.25 mg dm-3 GA3, 1.0 g dm-3 casein hydrolysate, 750 mg dm-3 inositol, 3% sucrose and 0.4% agar were able to regenerate shoots. The number of calluses regenerating shoots was highest from explants collected from fruiting nodes 6 to 9. Decapitation of donor plants increased the percentage of calluses regenerating shoots. On half-strength MS medium with 2 mg dm-3 NAA and on 1/2 MS alone, 11% of the shoots rooted; on 1/2 MS with 1 g dm-3 AC, 8.0% rooted. The regenerants were transferred to Perlite with Hoagland medium and acclimated. Ten percent of the regenerated plants survived the acclimation process, flowered and produced seeds

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature

Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. Case Report: This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Conclusions: Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies

The Effect of Ionizing Radiation on Vernalization, Growth and Development of Winter Wheat

The effects of gamma irradiation on the vernalization requirements, growth and development of winter wheat grown in a rainout shelter were studied during two successive growing seasons. Dry grains of winter wheat cv. Kobra were irradiated with 300 Gy radiation from a cobalt 60 gamma irradiator. Treated and control grains were pregerminated and subjected to vernalization for 0, 42 or 54 days. Morphological parameters of the plants developing from irradiated seeds (M1 generation) and the plants grown from the seeds produced by the irradiated plants (M2 generation) were measured in order to track the studied effects over two generations. Irradiation of dry grains slowed the growth and development of the plants regardless of the temperature treatment. The measured yield structure elements appeared to be lower for irradiated plants, but no clear effect of radiation on vernalization requirements was noted

The effect of ionizing radiation on vernalization, growth and development of winter wheat

The effects of gamma irradiation on the vernalization requirements, growth and development of winter wheat grown in a rainout shelter were studied during two successive growing seasons. Dry grains of winter wheat cv. Kobra were irradiated with 300 Gy radiation from a cobalt 60 gamma irradiator. Treated and control grains were pregerminated and subjected to vernalization for 0, 42 or 54 days. Morphological parameters of the plants developing from irradiated seeds (M1 generation) and the plants grown from the seeds produced by the irradiated plants (M2 generation) were measured in order to track the studied effects over two generations. Irradiation of dry grains slowed the growth and development of the plants regardless of the temperature treatment. The measured yield structure elements appeared to be lower for irradiated plants, but no clear effect of radiation on vernalization requirements was noted

Usefulness of Colon Assessment by Magnetic Resonance Enterography in Pediatric Patients with Inflammatory Bowel Disease—Retrospective Case Series

Background: Magnetic resonance enterography (MRE) is an excellent way to study the small bowels. During such an examination, the colon is also seen within the field of study. The aim of this study was to evaluate the effectiveness of MRE in detecting characteristics of active inflammatory bowel disease (IBD) in the colon, in comparison to different features seen in colonoscopies. Methods: This retrospective study was conducted with 41 children. Features of active inflammation we considered were wall thickening; contrast enhancement; incorrect signal in the DWI sequence in the MRE; and presence of ulceration, erosion, erythema, spontaneous bleeding and a decrease of the vascular pattern seen in colonoscopy. The colon was divided into six segments: caecum, ascending, transverse, descending, sigmoid and rectum. Results: The sensitivity of MRE was, on average, 50–75%, and as high as 92–100%, depending on the segment. The most important feature for which there was the most dependencies was ulceration. In the analysis of intestinal wall thickness, the AUC value >0.8 was detected as ulceration (segments: cecum, ascending, descending colon, sigmoid), spontaneous bleeding (ascending colon and sigmoid) and decreased vascular pattern (ascending, transverse, descending colon). Conclusions: Evaluation of qualitative structural changes in MRE distinguishes patients with inflammation in colonoscopy from patients without lesions, with high diagnostic accuracy, albeit higher specificity than sensitivity