Nitrogen is required for optimal plant growth, especially in young organs such as secondary axes (axes II) after axillary bud outgrowth. Several studies have shown an increase of nitrogen concentration in xylem sap concomitantly with bud outgrowth, but the relation between nitrogen, sugars and plant hormones in axis II still remains unclear. We investigated in Rosa hybrida the involvement of nitrogen nutrition in axis II elongation in relation with sugars and cytokinins using 15N-labeled nitrate and sugars, amino acids and cytokinin quantifications. Besides, we measured the effect of the exogenous supply of these compounds on axis II elongation using in vitro excised bud culture. We demonstrated that nitrogen in the axis II comes mainly from new root uptake after decapitation. Asparagine, which concentration increases in sap exudates and tissues during axis II elongation, was the sole amino acid able to sustain an efficient elongation in vitro when supplied in combination with sucrose.

• MeSH
• asparagin metabolismus   MeSH
• biologický transport MeSH
• cytokininy metabolismus   MeSH
• dusík metabolismus   MeSH
• kořeny rostlin metabolismus   MeSH
• regulátory růstu rostlin metabolismus   MeSH
• Rosa růst a vývoj   metabolismus   MeSH
• sacharosa metabolismus   MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• experimenty na zvířatech MeSH
• klouby nohy (od hlezna dolů) MeSH
• kosti dolní končetiny MeSH
• ovce MeSH
• prodloužení kosti metody   využití   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• abstrakty MeSH

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome. Whereas homozygous Aff3 knockout mice display skeletal anomalies, kidney defects, brain malformations, and neurological anomalies, knockin animals modeling one of the microdeletions and the most common of the missense variants identified in affected individuals presented with lower mesomelic limb deformities like KINSSHIP-affected individuals and early lethality, respectively. Overexpression of AFF3 in zebrafish resulted in body axis anomalies, providing some support for the pathological effect of increased amount of AFF3. The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transcription factors suggest that these factors are not redundant and each contributes uniquely to proper development.

• MeSH
• dánio pruhované genetika   MeSH
• dítě MeSH
• epilepsie komplikace   genetika   MeSH
• fenotyp MeSH
• frekvence genu MeSH
• fúze ledvin genetika   MeSH
• jaderné proteiny chemie   nedostatek   genetika   MeSH
• kojenec MeSH
• lidé MeSH
• mentální retardace genetika   MeSH
• missense mutace * MeSH
• mladiství MeSH
• mladý dospělý MeSH
• molekulární evoluce MeSH
• molekulární modely MeSH
• myši MeSH
• nemoci mozku etiologie   genetika   MeSH
• osteochondrodysplazie genetika   MeSH
• předškolní dítě MeSH
• sekvence aminokyselin MeSH
• stabilita proteinů MeSH
• syndrom MeSH
• transkripční elongační faktory chemie   genetika   MeSH
• zvířata MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• myši MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The study aimed to investigate changes in the eye axial length in juvenile guinea pigs and the expression of scleral specificity protein 1 (Sp1) and collagen type I (Col-I) under different light environments with varying spectral composition. The animals were randomly divided into five groups: natural light (N), LED light with a low colour temperature (L), E light (E), Fulia light (F), and Gulia light (G). Axial lengths were measured every two weeks, and the expression of Sp1 and Col-I in the sclera was assessed by immunohistochemistry, Western blot and RT-qPCR. After 4, 6, 8, 10, and 12 weeks of light exposure, the L and G groups showed considerably longer axial lengths than the N group, with the L group exhibiting significantly longer axial lengths compared with the E and F groups. The protein and mRNA expression levels of Sp1 and Col-I, ranked from highest to lowest, were as follows: N, E, F, G, and L. The expression of Sp1 and Col-I was positively correlated, but both were negatively correlated with the length of the eye axis. The E group demonstrated higher Sp1 and Col-I expression than the other artificial light groups. Artificial light with a continuous, full spectrum lacking peaks and valleys can inhibit the elongation of the eye axis in juvenile guinea pigs and has a protective effect against myopia. There may be a certain relationship between Sp1 and Col-I, and the transforming growth factor-β1-Sp1-Col-I signalling pathway may play a crucial role in myopic scleral extracellular matrix remodelling.

• MeSH
• axiální délka oka MeSH
• kolagen typu I * metabolismus   genetika   MeSH
• messenger RNA metabolismus   genetika   MeSH
• morčata MeSH
• myopie metabolismus   genetika   patologie   MeSH
• regulace genové exprese MeSH
• skléra * metabolismus   MeSH
• světlo * MeSH
• transkripční faktor Sp1 * metabolismus   genetika   MeSH
• zvířata MeSH
• Check Tag
• morčata MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

While morphological traits are often associated with multiple functions, it remains unclear how evolution balances the selective effects of different functions. Birds' beaks function not only in foraging but also in thermoregulating and singing, among other behaviours. Studies of beak evolution abound, however, most focus on a single function. Hence, we quantified relative contributions of different functions over an evolutionary timescale. We measured beak shape using geometric morphometrics and compared this trait with foraging behaviour, climatic variables and song characteristics in a phylogenetic comparative study of an Australasian radiation of songbirds (Meliphagidae). We found that both climate and foraging behaviour were significantly correlated with the beak shape and size. However, foraging ecology had a greater effect on shape, and climate had a nearly equal effect on size. We also found that evolutionary changes in beak morphology had significant consequences for vocal performance: species with elongate-shaped beaks sang at higher frequencies, while species with large beaks sang at a slower pace. The evolution of the avian beak exemplifies how morphological traits can be an evolutionary compromise among functions, and suggests that specialization along any functional axis may increase ecological divergence or reproductive isolation along others.

• MeSH
• biologická evoluce MeSH
• fenotyp * MeSH
• termoregulace MeSH
• vokalizace zvířat MeSH
• zobák anatomie a histologie   MeSH
• zpěvní ptáci fyziologie   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

A new coccidian parasite of the genus Eimeria Schneider, 1875 is described from the subterranean African silvery mole-rat Heliophobius argenteocinereus Peters, 1846. Oocysts of Eimeria burdai sp. n. were subspherical to broadly ellipsoidal 17.8 (16-19) x 14.1 (12-15), with a shape index 1.2 (1.1-1.4). Oocyst wall was bilayered, smooth and colourless, approximately 1.0 thick. Outer layer was significantly thicker than inner one. A micropyle and oocyst residuum were absent. One or two ellipsoidal or spherical polar granules were present. Sporocysts were ellipsoidal, 10.8 (9-12) x 6.2 (5-8) with a shape index 1.7 (1.5-1.9). Sporocyst wall was single-layered, thin, smooth and colourless, with small Stieda body at the pointed end. In freshly sporulated oocysts, spherical sporocyst residuum was composed of small granules enclosed by a thin membrane. Sporozoites were elongate, lying length-wise in the long axis of the sporocyst, partially curled around each other, with single large refractile body located posteriorly. Faintly distinguishable nucleus was in the central part of the sporozoite. This eimerian represents the first coccidian species described from subterranean African silvery mole-rat (Rodentia: Bathyergidae).

• MeSH
• Eimeria klasifikace   růst a vývoj   izolace a purifikace   MeSH
• kokcidióza parazitologie   veterinární   MeSH
• mikroftalmičtí podzemní hlodavci parazitologie   MeSH
• nemoci hlodavců parazitologie   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Afrika MeSH

• MeSH
• věda MeSH
• Publikační typ
• periodika MeSH

• Konspekt
• Věda. Všeobecnosti. Základy vědy a kultury. Vědecká práce
• NLK Obory
• věda a výzkum
• lékařství

Gallbladder volvulus (GV) is a medical emergency and a rare cause of acute abdominal pain among the pediatric population. GV is more prominent usually in boys in pediatric patients. If it is not diagnosed and surgically intervened promptly, GV will become a life-threating condition. Fortunately, a safe and effective laparoscopic cholecystectomy is now widely indicated. A 5 years old female patient with abdominal pain and heavy much vomiting was referred to the emergency room in our hospital. She was suspiciously diagnosed with acute inflammation of the gallbladder according to the results of abdominal ultrasound and computerized tomography (CT) scan already performed on admission. One day after the hospitalization, abdominal ultrasound, and CT scan were performed again because of intensification of her abdominal pain and revealed the clinical portrait of GV such as a "floating gallbladder" sign, an echogenic cone structure, an elongated axis displaced horizontally instead of vertically and a lack of intramural blood flow. The acute GV diagnosis was made and the patient was operated, using the laparoscopic cholecystectomy on time, the gallbladder was tightly twisted clockwise at approximately 720°. The operation and postoperative treatment went quite well and the patient was discharged from the hospital on postoperative Day 7. GV is very rare in children, easily omitted or misdiagnosed with cholecystitis. Imaging diagnosis such as ultrasound, CT with contrast helps make diagnosis promptly that avoids severe complications such as gallbladder perforation, necrosis, and biliary peritonitis.

• Publikační typ
• kazuistiky MeSH

PURPOSE OF THE STUDY: The aim of the study was to clinically and radiographically evaluate the results of a two-stage surgical technique used in our department to treat congenital vertical talus. MATERIAL AND METHODS: In the years 1990-2010 we treated eight patients (nine feet). We used a two-stage surgical technique, with lengthening of the dorsiflexor muscles of the leg and the tibialis anterior muscle at the first stage. This was followed by cast fixation with the ankle in plantar flexion for 6 weeks. At the second stage, through a Cincinnati approach, the talonavicular and calcaneocuboid joints were reduced and the Achilles tendon and peroneal tendons were elongated. Two patients underwent the Grice extra-articular subtalar arthrodesis at the third stage. The post-operative outcomes were assessed based on radiographic findings of dorsoplantar views of the talocalcaneal angle (TC AP) and talar axis-first metatarsal base angle (TAMBA AP), lateral views of the weight-bearing talocalcaneal angle (TC LAT), talar axis-first metatarsal base angle (TAMBA LAT) and talotibial angle (TT). In all patients but one who was lost to follow-up, the radiographic and objective findings were evaluated with the 10-point scale described by Adelaar et al. RESULTS: The average follow-up was 8 years and 9 months. All radiographic findings showed improvement in all angles measured. The pre-operative values decreased in TC AP from 64.2° to 27.6°; in TC LAT from 48.8° to 30.4°; in TT from 158° to 109.3°; in TAMBA AP from 54.7° to 17.4°; in TAMBA LAT from 57.3° to 5.7°. The Adelaar scoring system was employed in seven patients of whom three had excellent, three good and one fair results. Two patients required additional surgery due to recurrence of the deformity DISCUSSION: Studies in recent years have shown a gradual diversion from extensive surgical procedures and a trend toward techniques like manipulation, serial casting application and minimal surgical intervention with talonavicular reduction and fixation. The Dobbs technique has so far shown good results but no long-term results have yet been available and therefore the number of recurrent cases is not known. CONCLUSIONS: The two-stage surgical technique used in our department proved to be very successful in a long-term follow-up, but the group of patients was too small to provide conclusive evidence. However, benefits of this technique are clearly apparent from the post-operative radiographic and objective findings assessed as very good.

• MeSH
• Achillova šlacha chirurgie   MeSH
• artrodéza metody   MeSH
• kosterní svaly chirurgie   MeSH
• lidé MeSH
• následné studie MeSH
• sádrové obvazy MeSH
• talus radiografie   chirurgie   MeSH
• tenotomie metody   MeSH
• vrozené deformity nohy (od hlezna dolů) radiografie   chirurgie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• hodnotící studie MeSH

The primary cilium, a microtubule-based organelle found in most cells, is a centre for mechano-sensing fluid movement and cellular signalling, notably through the Hedgehog pathway. We recently found that each lens fibre cell has an apically situated primary cilium that is polarised to the side of the cell facing the anterior pole of the lens. The direction of polarity is similar in neighbouring cells so that in the global view, lens fibres exhibit planar cell polarity (PCP) along the equatorial-anterior polar axis. Ciliogenesis has been associated with the establishment of PCP, although the exact relationship between PCP and the role of cilia is still controversial. To test the hypothesis that the primary cilia have a role in coordinating the precise alignment/orientation of the fibre cells, IFT88, a key component of the intraflagellar transport (IFT) complex, was removed specifically from the lens at different developmental stages using several lens-specific Cre-expressing mouse lines (MLR10- and LR-Cre). Irrespective of which Cre-line was adopted, both demonstrated that in IFT88-depleted cells, the ciliary axoneme was absent or substantially shortened, confirming the disruption of primary cilia formation. However no obvious histological defects were detected even when IFT88 was removed from the lens placode as early as E9.5. Specifically, the lens fibres aligned/oriented towards the poles to form the characteristic Y-shaped sutures as normal. Consistent with this, in primary lens epithelial explants prepared from these conditional knockout mouse lenses, the basal bodies still showed polarised localisation at the apical surface of elongating cells upon FGF-induced fibre differentiation. We further investigated the lens phenotype in knockouts of Bardet-Biedl Syndrome (BBS) proteins 4 and 8, the components of the BBSome complex which modulate ciliary function. In these BBS4 and 8 knockout lenses, again we found the pattern of the anterior sutures formed by the apical tips of elongating/migrating fibres were comparable to the control lenses. Taken together, these results indicate that primary cilia do not play an essential role in the precise cellular alignment/orientation of fibre cells. Thus, it appears that in the lens cilia are not required to establish PCP.

• MeSH
• cilie fyziologie   MeSH
• epitelové buňky ultrastruktura   MeSH
• kultivované buňky MeSH
• myši knockoutované MeSH
• nádorové supresorové proteiny genetika   MeSH
• oční čočka ultrastruktura   MeSH
• polarita buněk MeSH
• proteiny asociované s mikrotubuly genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH