120 research outputs found
Influence of hypokinesis on physiological functions in fowl
The effects of hypokinesis and postincubation stress (which are characteristic for modern techniques of poultry cage keeping) on the endocrine functions, metabolic reactions, body weight growth and proteosynthesis in the muscle of cocks was investigated. The stress due to hypokinesis was observed in growing cocks housed in metallic cages in which they could hardly turn around. The findings obtained indicate that a 35-day hypokinesis did not exert any more significant influence both on physiological functions and body weight growth as well as on proteosynthesis in the muscle of cocks under study; however, it speeded up the protein metabolism in the muscle. The postincubation stress modified significantly the hypokinesis effect. Findings recorded in birds differed considerably from findings obtained in laboratory mammals, in which the hypokinesis induced significant changes in endocrine functions, body weight decrease and proteosynthesis disorders. A good tolerance of hypokinesis by fowl can be interpreted not only by the phylogenetic remoteness of the compared species but also by the domestication
Coherent control of magnetization precession in ferromagnetic semiconductor (Ga,Mn)As
We report single-color, time resolved magneto-optical measurements in
ferromagnetic semiconductor (Ga,Mn)As. We demonstrate coherent optical control
of the magnetization precession by applying two successive ultrashort laser
pulses. The magnetic field and temperature dependent experiments reveal the
collective Mn-moment nature of the oscillatory part of the time-dependent Kerr
rotation, as well as contributions to the magneto-optical signal that are not
connected with the magnetization dynamics.Comment: 6 pages, 3 figures, accepted in Applied Physics Letter
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene.
Methods Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c. 317-2A -> G mutation in the TMEM70 gene.
Results Severe muscular hypotonia (in 92% of newborns), apnoic spells (92%), hypertrophic cardiomyopathy (HCMP; 76%) and profound lactic acidosis (lactate 5-36 mmol/l; 92%) with hyperammonaemia (100-520 mu mol/l; 86%) were present from birth. Ten patients died within the first 6 weeks of life. Most patients surviving the neonatal period had persisting muscular hypotonia and developed psychomotor delay. HCMP was non-progressive and even disappeared in some children. Hypospadia was present in 54% of the boys and cryptorchidism in 67%. Increased excretion of lactate and 3-methylglutaconic acid (3-MGC) was observed in all patients. In four surviving patients, life-threatening hyperammonaemia occurred during childhood, triggered by acute gastroenteritis and prolonged fasting.
Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children
Optical determination of the NĂ©el vector in a CuMnAs thin-film antiferromagnet
Recent breakthroughs in electrical detection and manipulation of antiferromagnets have opened a new avenue in the research of non-volatile spintronic devices.1-10 Antiparallel spin sublattices in antiferromagnets, producing zero dipolar fields, lead to the insensitivity to magnetic field perturbations, multi-level stability, ultrafast spin dynamics and other favorable characteristics which may find utility in fields ranging from magnetic memories to optical signal processing. However, the absence of a net magnetic moment and the ultra-short magnetization dynamics timescales make antiferromagnets notoriously difficult to study by common magnetometers or magnetic resonance techniques. In this paper we demonstrate the experimental determination of the NĂ©el vector in a thin film of antiferromagnetic CuMnAs9,10 which is the prominent material used in the first realization of antiferromagnetic memory chips.10 We employ a femtosecond pump-probe magneto-optical experiment based on magnetic linear dichroism. This table-top optical method is considerably more accessible than the traditionally employed large scale facility techniques like neutron diffraction11 and Xray magnetic dichroism measurements.12-14 This optical technique allows an unambiguous direct determination of the NĂ©el vector orientation in thin antiferromagnetic films utilized in devices directly from measured data without fitting to a theoretical model
Should patients with kearns-sayre syndrome and corneal endothelial failure be genotyped for a TCF4 trinucleotide repeat, commonly associated with fuchs endothelial corneal dystrophy?
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of TCF4 (termed CTG18.1) was genotyped using the short tandem repeat assay. The diagnosis of KSS spectrum was based on the presence of ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy, hearing loss, and muscle weakness, which were further supported by the detection of ~6.5 kb mtDNA deletion. At the age of 33 years, the proband’s best corrected visual acuity was reduced to 0.04 in the right eye and 0.2 in the left eye. Rare ocular findings included marked corneal oedema with central corneal thickness of 824 and 844 µm in the right and left eye, respectively. No pathogenic variants in the genes, which are associated with corneal endothelial dystrophies, were identified. Furthermore, the CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells
KDIGO Controversies Conference on onco-nephrology: understanding kidney impairment and solid-organ malignancies, and managing kidney cancer
The association between kidney disease and cancer is multifaceted and complex. Persons with chronic kidney disease (CKD) have an increased incidence of cancer, and both cancer and cancer treatments can cause impaired kidney function. Renal issues in the setting of malignancy can worsen patient outcomes and diminish the adequacy of anticancer treatments. In addition, the oncology treatment landscape is changing rapidly, and data on tolerability of novel therapies in patients with CKD are often lacking. Caring for oncology patients has become more specialized and interdisciplinary, currently requiring collaboration among specialists in nephrology, medical oncology, critical care, clinical pharmacology/pharmacy, and palliative care, in addition to surgeons and urologists. To identify key management issues in nephrology relevant to patients with malignancy, KDIGO (Kidney Disease: Improving Global Outcomes) assembled a global panel of multidisciplinary clinical and scientific expertise for a controversies conference on onco-nephrology in December 2018. This report covers issues related to kidney impairment and solid organ malignancies as well as management and treatment of kidney cancer. Knowledge gaps, areas of controversy, and research priorities are described
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
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