pattern defect
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Plant plasma membrane associated proteins play significant roles in Microbe-Associated Molecular Pattern (MAMP) mediated defence responses including signal transduction, membrane transport or energetic metabolism. To elucidate the dynamics of proteins associated with plasma membrane in response to cryptogein, a well-known MAMP of defence reaction secreted by the oomycete Phytophthora cryptogea, 2D-Blue Native/SDS gel electrophoresis of plasma membrane fractions was employed. This approach revealed 21 up- or down-regulated protein spots of which 15 were successfully identified as proteins related to transport through plasma membrane, vesicle trafficking, and metabolic enzymes including cytosolic NADP-malic enzyme and glutamine synthetase. Observed changes in proteins were also confirmed on transcriptional level by qRT-PCR analysis. In addition, a significantly decreased accumulation of transcripts observed after employment of a mutant variant of cryptogein Leu41Phe, exhibiting a conspicuous defect in induction of resistance, sustains the contribution of identified proteins in cryptogein-triggered cellular responses. Our data provide further evidence for dynamic MAMP-induced changes in plasma membrane associated proteins.
- MeSH
- buněčná membrána metabolismus MeSH
- chromatografie kapalinová MeSH
- elektroforéza v polyakrylamidovém gelu MeSH
- fungální proteiny genetika metabolismus MeSH
- membránové proteiny genetika metabolismus MeSH
- PAMP struktury metabolismus MeSH
- Phytophthora fyziologie MeSH
- rostlinné proteiny genetika metabolismus MeSH
- tabák genetika metabolismus mikrobiologie MeSH
- tandemová hmotnostní spektrometrie MeSH
- trypsin chemie MeSH
- Publikační typ
- časopisecké články MeSH
The number of L cones in the retina normally exceeds that of the M cones. Because normal color vision does not depend on the ratio of L- and M-photoreceptors, their signals must undergo an alteration in gain before being analyzed in the cortex. Previous studies have shown that this gain must take place before the cortex, but after the bipolar/amacrine cell layer of the retina. The aim of this study was to obtain topographical information about L- and M-cone activity at the ganglion cell layer using multifocal pattern electroretinography (mfPERG). A standard (black and white) stimulus was used, as well as stimuli modulating only the long wavelength-sensitive (L) or only the middle wavelength-sensitive (M) cones. The L:M ratio was calculated from the amplitude of the L-cone isolating mfPERG to that of the M-cone isolating mfPERG of 10 trichromats. Both the positive and negative components of the waveform were analyzed. Additional recordings of single cone modulated mfERGs were obtained from nine of the 10 subjects. We also recorded from one protanope and one deuteranope. The L:M cone amplitude ratios for both deflections of the mfPERG in the trichromats were around unity (medians 1.18 and 1.16, respectively) for the central 8 degrees of retina. In the peripheral retina between 12.8 degrees and 26 degrees , this ratio increased to 1.42 for the positive component, and 1.37 for the negative component. The median L:M cone amplitude ratios for the mfPERG were higher and ranged between 1.00-2.78 in the central 8 degrees and 1.29-2.78 in the periphery. The results indicate that a major gain adjustment of the retinal signals takes place at the ganglion cell level, and that the ratio is higher at eccentric locations than in the central retinal area.
- MeSH
- barva MeSH
- čípky retiny parazitologie MeSH
- citlivost na kontrast fyziologie MeSH
- dospělí MeSH
- elektroretinografie MeSH
- lidé MeSH
- poruchy barevného vidění patofyziologie MeSH
- psychofyzika MeSH
- reakční čas MeSH
- senzorické prahy fyziologie MeSH
- světelná stimulace MeSH
- testy barvocitu MeSH
- vnímání barev MeSH
- zraková pole fyziologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
A 6-year-old female neutered Turkish Angora cat was referred due to tachypnoea. The patient was diagnosed with cardiomegaly at a local hospital during a health screening two years ago. Tachypnoea occurred one year ago. On physical examination, the patient presented with a respiratory rate of 72 breaths per minute and a systolic blood pressure of 70 mmHg. Thoracic radiographs revealed severe cardiomegaly, left atrium (LA) enlargement, right atrium (RA) enlargement, right ventricular enlargement, and dilation of pulmonary arteries and veins. An alveolar pattern was identified in the right and left cranial lung lobes. Echocardiography revealed a membrane that divided the LA into two chambers, a defect in the lower atrial septum, and elongation of anterior or posterior tricuspid valves (TV). However, septal TV was not observed. During systole, blood flow from LA to RA was confirmed through a defect in the atrial septum. During diastole, blood flow from LA to left ventricular was confirmed. These findings suggest cor triatriatum sinister (CTS) with partial atrioventricular septal defect (AVSD). This report describes echocardiographic diagnosis of CTS with partial AVSD in a cat.
1st ed. 145 s.
Kombinácia skalpačného poranenia prstov a mutilácie ďalších prstov ruky môže byť urgentne riešená kombináciou arterializovaného stopkatého laloka z predlaktia a vzdialeného axiálneho laloka. Táto kombinácia je alternatívou bežne popisovanej kombinácie posteriórneho interoseálneho laloka a laterálneho „arm” laloka. Zakrytie defektov na ruke urgentne nezvyšuje riziko komplikácií a redukuje čas hospitalizácie. Vtomto článku prezentujeme prípad 26 ročného muža, ktorý utrpel vážne poranenie pravej ruky. Pacient podstúpil urgentné ošetrenie kombináciou hypogastrického a interoseálneho posteriórneho laloka. Napriek tomu, že nie je bežným zvykom uskutočniť zakrytie defektov na ruke urgentne, dosiahnutý prezentovaný výsledok u pacienta je uspokojivý. Autori chcú poukázať, že radikálna primárna rekonštrukcia defektov ruky poskytuje ekvivalentný výsledok v porovnaní s odloženou rekonštrukcií kožných defektov ruky.
A combination of degloving injury of the fingers and mutilation of other fingers with skin defect may be treated urgently with a combination of arterialised pedicle flaps from the forearm and distant axial pattern flap. This combination is an alternative to the combination of posterior interosseous and lateral arm flap. Application of flaps urgently in emergencies does not increase risk of complications and shortens hospitalisation time. In this article we present the case of a 26-year-old male who sustained a serious injury of the right hand. The patient underwent urgent skin defect reconstruction performed by posterior interosseous and hypogastric flap combination. Although it is not usual to make a combination of flaps urgently, the final outcome is satisfactory. The authors wish to point out that radical primary reconstructive procedures give equivalent outcome to delayed reconstruction.
- MeSH
- lidé MeSH
- plastická chirurgie metody využití MeSH
- poranění ruky chirurgie terapie MeSH
- předloktí chirurgie MeSH
- transplantace tkání metody využití MeSH
- zákroky plastické chirurgie metody využití MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, craniofacial dysmorphy, cataracts, cutaneous anomalies including ichthyosis, asymmetric rhizomesomelic shortness of the limbs, deformity of the spine, club foot, polydactyly, syndactyly, epiphyseal stippling and low cholesterol (2.29 mmol/l). Spectrophotometric analysis revealed the presence of abnormal pattern of cholesterol precursors in blood. The increased level of 8-dehydrocholesterol (42.2 µmol/l, controls < 1) and 7-dehydrocholesterol (25.5 µmol/l, controls < 1) recognised with GC/MS suggested an endogenous defect of cholesterol biosynthesis. The diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) was confirmed by the molecular analysis. Sequencing of the EBP gene encoding for 3ß-hydroxysteroid-?8, ?7-isomerase revealed the presence of “de novo” heterozygous mutation c.327C>T (p.Arg110Stop). High cholesterol diet normalized cholesterol level (3.28 mmol/l) but it had no influence on the unfavourable prognosis of the disease. Low level of cholesterol with abnormal sterol profile in a child with congenital development anomalies represent an important laboratory marker suggesting an inherited defect of cholesterol biosynthesis.
- MeSH
- cholesterol biosyntéza nedostatek škodlivé účinky MeSH
- chondrodysplasia punctata diagnóza etiologie MeSH
- dehydrocholesteroly izolace a purifikace škodlivé účinky MeSH
- diagnostické zobrazování metody využití MeSH
- finanční podpora výzkumu jako téma MeSH
- ichtyóza komplikace MeSH
- kojenec MeSH
- spektrofotometrie využití MeSH
- Check Tag
- kojenec MeSH
- Publikační typ
- kazuistiky MeSH
The human Sec61 complex is a widely distributed and abundant molecular machine. It resides in the membrane of the endoplasmic reticulum to channel two types of cargo: protein substrates and calcium ions. The SEC61A1 gene encodes for the pore-forming Sec61α subunit of the Sec61 complex. Despite their ubiquitous expression, the idiopathic SEC61A1 missense mutations p.V67G and p.T185A trigger a localized disease pattern diagnosed as autosomal dominant tubulointerstitial kidney disease (ADTKD-SEC61A1). Using cellular disease models for ADTKD-SEC61A1, we identified an impaired protein transport of the renal secretory protein renin and a reduced abundance of regulatory calcium transporters, including SERCA2. Treatment with the molecular chaperone phenylbutyrate reversed the defective protein transport of renin and the imbalanced calcium homeostasis. Signal peptide substitution experiments pointed at targeting sequences as the cause for the substrate-specific impairment of protein transport in the presence of the V67G or T185A mutations. Similarly, dominant mutations in the signal peptide of renin also cause ADTKD and point to impaired transport of this renal hormone as important pathogenic feature for ADTKD-SEC61A1 patients as well.
- MeSH
- endoplazmatické retikulum metabolismus MeSH
- fenylbutyráty metabolismus farmakologie MeSH
- HEK293 buňky MeSH
- lidé MeSH
- missense mutace MeSH
- molekulární chaperony metabolismus MeSH
- nemoci ledvin patofyziologie MeSH
- polycystická choroba ledvin MeSH
- renin genetika metabolismus MeSH
- sarkoplazmatická Ca2+-ATPáza metabolismus MeSH
- translokační kanály SEC chemie genetika metabolismus MeSH
- transport proteinů genetika MeSH
- vápník metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Cardiac resynchronization therapy (CRT) is an emerging option for treating dyssynchrony-associated heart failure in patients with pediatric or congenital heart disease. CRT has proved beneficial for both the acute manipulation of cardiac output after surgery for congenital heart defects and for the management of chronic systemic ventricular failure. Although there are no prospective and randomized trial data, retrospective series show that CRT is similarly effective for managing dyssynchrony-associated heart failure in this younger population as it is for treating adults with ischemic and idiopathic dilated cardiomyopathy. The heterogeneity of anatomical and functional substrates in which CRT shows efficacy calls for further studies defining the usefulness of CRT in specific subgroups of patients.
- MeSH
- kardiostimulace umělá * metody MeSH
- kojenec MeSH
- lékařská praxe - způsoby provádění MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- srdeční arytmie * etiologie terapie MeSH
- srdeční selhání * prevence a kontrola MeSH
- vrozené srdeční vady * komplikace terapie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- přehledy MeSH
